MedWorm.com provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest items from the 'Brain' source. Wed, 08 Feb 2012 20:42:58 +0100 http://www.medworm.com/index.php?rid=5639448&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F301%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639448 Sat, 28 Jan 2012 05:00:00 +0100 5639448 http://www.medworm.com/index.php?rid=5639447&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F285%3Frss%3D1 As a consequence of nascent technology, the 19th century witnessed a profound change in orientation to the nervous system. For example, improved microscopy in the first half of the 19th century allowed high magnification without blurring. The subsequent observation of nucleated cells led to the identification of individual brain cells. Philosophical changes in approach to the natural sciences took their lead from those applied to physical observations. The Ukrainian anatomist and histologist, Vladimir Alekseyevich Betz (1834–94) played a pivotal role in reshaping scientific and philosophical approaches to the brain, connecting cerebral localization, function and brain microstructure. Betz revolutionized methods of cell fixation and staining. Sometimes his efforts yielded enormously c... Brain journals http://www.medworm.com/rss/comments.php?id=5639447 Sat, 28 Jan 2012 05:00:00 +0100 5639447 http://www.medworm.com/index.php?rid=5639446&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F276%3Frss%3D1 This study was performed to test directly whether increases in ipsilesional cortical activation with transcranial direct current stimulation are associated with behavioural improvements in chronic stroke patients. Patients at least 6 months post-first stroke participated in a behavioural experiment (n = 13) or a functional magnetic resonance imaging experiment (n = 11), each investigating the effects of three stimulation conditions in separate sessions: anodal stimulation to the ipsilesional hemisphere; cathodal stimulation to the contralesional hemisphere; and sham stimulation. Anodal (facilitatory) stimulation to the ipsilesional hemisphere led to significant improvements (5–10%) in response times with the affected hand in both experiments. This improvement was associated with an i... Brain journals http://www.medworm.com/rss/comments.php?id=5639446 Sat, 28 Jan 2012 05:00:00 +0100 5639446 http://www.medworm.com/index.php?rid=5639445&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F259%3Frss%3D1 Spreading depolarization of cells in cerebral grey matter is characterized by massive ion translocation, neuronal swelling and large changes in direct current-coupled voltage recording. The near-complete sustained depolarization above the inactivation threshold for action potential generating channels initiates spreading depression of brain activity. In contrast, epileptic seizures show modest ion translocation and sustained depolarization below the inactivation threshold for action potential generating channels. Such modest sustained depolarization allows synchronous, highly frequent neuronal firing; ictal epileptic field potentials being its electrocorticographic and epileptic seizure its clinical correlate. Nevertheless, Leão in 1944 and Van Harreveld and Stamm in 1953 described ... Brain journals http://www.medworm.com/rss/comments.php?id=5639445 Sat, 28 Jan 2012 05:00:00 +0100 5639445 http://www.medworm.com/index.php?rid=5639444&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F242%3Frss%3D1 In this study, therefore, we investigated the semantic performance of 20 patients with resection for chronic temporal lobe epilepsy with a full battery of semantic assessments, including more sensitive measures of semantic processing. The results provide a bridge between the current clinical observations about resection for temporal lobe epilepsy and the expectations from semantic dementia and other neuroscience findings. Specifically, we found that on simple semantic tasks, the patients’ accuracy fell in the normal range, with the exception that some patients with left resection for temporal lobe epilepsy had measurable anomia. Once the semantic assessments were made more challenging, by probing specific-level concepts, lower frequency/more abstract items or measuring reaction times... Brain journals http://www.medworm.com/rss/comments.php?id=5639444 Sat, 28 Jan 2012 05:00:00 +0100 5639444 http://www.medworm.com/index.php?rid=5639443&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F228%3Frss%3D1 In this study, we investigated both cognitive and affective theory of mind in a group of patients with semantic dementia, using separate objective and subjective assessment tasks. Results provided objective evidence of an impact of semantic dementia on cognitive and affective theory of mind, consistent with the patients’ atrophy in the left temporal lobe and hypometabolism in the temporal lobes and the medial frontal cortex. However, the subjective assessment of theory of mind suggested that awareness of the affective but not cognitive theory of mind deficit persists into the moderate stage of the disease. (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639443 Sat, 28 Jan 2012 05:00:00 +0100 5639443 http://www.medworm.com/index.php?rid=5639442&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F216%3Frss%3D1 The growth hormone-insulin-like growth factor-1 axis plays a role in normal brain growth but little is known of the effect of growth hormone deficiency on brain structure. Children with isolated growth hormone deficiency (peak growth hormone <6.7 µg/l) and idiopathic short stature (peak growth hormone >10 µg/l) underwent cognitive assessment, diffusion tensor imaging and volumetric magnetic resonance imaging prior to commencing growth hormone treatment. Total brain, corpus callosal, hippocampal, thalamic and basal ganglia volumes were determined using Freesurfer. Fractional anisotropy (a marker of white matter structural integrity) images were aligned and tract-based spatial statistics performed. Fifteen children (mean 8.8 years of age) with isolated growth hormone defici... Brain journals http://www.medworm.com/rss/comments.php?id=5639442 Sat, 28 Jan 2012 05:00:00 +0100 5639442 http://www.medworm.com/index.php?rid=5639441&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2Fe204%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639441 Sat, 28 Jan 2012 05:00:00 +0100 5639441 http://www.medworm.com/index.php?rid=5639440&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2Fe203%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639440 Sat, 28 Jan 2012 05:00:00 +0100 5639440 http://www.medworm.com/index.php?rid=5639439&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2Fe202%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639439 Sat, 28 Jan 2012 05:00:00 +0100 5639439 http://www.medworm.com/index.php?rid=5639438&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2Fe201%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639438 Sat, 28 Jan 2012 05:00:00 +0100 5639438 http://www.medworm.com/index.php?rid=5639437&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F201%3Frss%3D1 Executive functions describe a wide variety of higher order cognitive processes that allow the flexible modification of thought and behaviour in response to changing cognitive or environmental contexts. Their impairment is common in neurodegenerative disorders. Executive deficits negatively affect everyday activities and hamper the ability to cope with other deficits, such as memory impairment in Alzheimer's disease or behavioural disorders in frontotemporal lobar degeneration. Our study aimed to characterize the neural correlates of executive functions by relating respective deficits to regional hypometabolism in early dementia. Executive functions were assessed with two classical tests, the Stroop and semantic fluency test and various subtests of the behavioural assessment of the dysexec... Brain journals http://www.medworm.com/rss/comments.php?id=5639437 Sat, 28 Jan 2012 05:00:00 +0100 5639437 http://www.medworm.com/index.php?rid=5639436&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2Fe200%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639436 Sat, 28 Jan 2012 05:00:00 +0100 5639436 http://www.medworm.com/index.php?rid=5639435&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2Fe199%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639435 Sat, 28 Jan 2012 05:00:00 +0100 5639435 http://www.medworm.com/index.php?rid=5639434&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2Fe198%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639434 Sat, 28 Jan 2012 05:00:00 +0100 5639434 http://www.medworm.com/index.php?rid=5639433&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2Fe197%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639433 Sat, 28 Jan 2012 05:00:00 +0100 5639433 http://www.medworm.com/index.php?rid=5639432&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F190%3Frss%3D1 Parsing of sound sources in the auditory environment or ‘auditory scene analysis’ is a computationally demanding cognitive operation that is likely to be vulnerable to the neurodegenerative process in Alzheimer’s disease. However, little information is available concerning auditory scene analysis in Alzheimer's disease. Here we undertook a detailed neuropsychological and neuroanatomical characterization of auditory scene analysis in a cohort of 21 patients with clinically typical Alzheimer's disease versus age-matched healthy control subjects. We designed a novel auditory dual stream paradigm based on synthetic sound sequences to assess two key generic operations in auditory scene analysis (object segregation and grouping) in relation to simpler auditory perceptual, task ... Brain journals http://www.medworm.com/rss/comments.php?id=5639432 Sat, 28 Jan 2012 05:00:00 +0100 5639432 http://www.medworm.com/index.php?rid=5639431&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F181%3Frss%3D1 A major pathological hallmark of Alzheimer's disease is accumulation of amyloid-β in senile plaques in the brain. Evidence is accumulating that decreased clearance of amyloid-β from the brain may lead to these elevated amyloid-β levels. One of the clearance pathways of amyloid-β is transport across the blood–brain barrier via efflux transporters. P-glycoprotein, an efflux pump highly expressed at the endothelial cells of the blood–brain barrier, has been shown to transport amyloid-β. P-glycoprotein function can be assessed in vivo using (R)-[11C]verapamil and positron emission tomography. The aim of this study was to assess blood–brain barrier P-glycoprotein function in patients with Alzheimer's disease compared with age-matched healthy controls u... Brain journals http://www.medworm.com/rss/comments.php?id=5639431 Sat, 28 Jan 2012 05:00:00 +0100 5639431 http://www.medworm.com/index.php?rid=5639430&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F170%3Frss%3D1 Research suggests overlap in brain regions undergoing neurodegeneration in Parkinson's and Alzheimer's disease. To assess the clinical significance of this, we applied a validated Alzheimer's disease-spatial pattern of brain atrophy to patients with Parkinson's disease with a range of cognitive abilities to determine its association with cognitive performance and decline. At baseline, 84 subjects received structural magnetic resonance imaging brain scans and completed the Dementia Rating Scale-2, and new robust and expanded Dementia Rating Scale-2 norms were applied to cognitively classify participants. Fifty-nine non-demented subjects were assessed annually with the Dementia Rating Scale-2 for two additional years. Magnetic resonance imaging scans were quantified using both a region of in... Brain journals http://www.medworm.com/rss/comments.php?id=5639430 Sat, 28 Jan 2012 05:00:00 +0100 5639430 http://www.medworm.com/index.php?rid=5639429&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F161%3Frss%3D1 In this study, we investigated the possible associations between olfactory dysfunction and the risk of developing dementia within a 3-year observation period. Forty-four patients with Parkinson's disease without dementia underwent the odour stick identification test for Japanese, memory and visuoperceptual assessments, 18F-fluorodeoxyglucose positron emission tomography scans and magnetic resonance imaging scans at baseline and 3 years later. A subgroup of patients with Parkinson's disease who exhibited severe hyposmia at baseline showed more pronounced cognitive decline at the follow-up survey. By the end of the study, 10 of 44 patients with Parkinson's disease had developed dementia, all of whom had severe hyposmia at baseline. The multivariate logistic analysis identified severe hyposmi... Brain journals http://www.medworm.com/rss/comments.php?id=5639429 Sat, 28 Jan 2012 05:00:00 +0100 5639429 http://www.medworm.com/index.php?rid=5639428&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F148%3Frss%3D1 The pedunculopontine nucleus, a component of the reticular formation, is topographically organized in animal models and implicated in locomotor control. In Parkinson's disease, pedunculopontine nucleus stimulation is an emerging treatment for gait freezing. Local field potentials recorded from pedunculopontine nucleus electrodes in such patients have demonstrated oscillations in the alpha and beta frequency bands, reactive to self-paced movement. Whether these oscillations are topographically organized or relevant to locomotion is unknown. Here, we recorded local field potentials from the pedunculopontine nucleus in parkinsonian patients during rest and unconstrained walking. Relative gait speed was assessed with trunk accelerometry. Peaks of alpha power were present at rest and during gai... Brain journals http://www.medworm.com/rss/comments.php?id=5639428 Sat, 28 Jan 2012 05:00:00 +0100 5639428 http://www.medworm.com/index.php?rid=5639427&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F139%3Frss%3D1 Although a cardinal symptom of Parkinsonian disease, up to now, rigidity has been investigated much less than spasticity in hemiplegic patients. Many pathophysiological mechanisms may at least theoretically contribute to Parkinsonian rigidity, from altered viscoelastic muscle properties to inability of parkinsonian patients to relax. However, as demonstrated many years ago, motoneuron responses to muscle afferent volleys are involved in rigidity since afferent volleys are suppressed after dorsal root section. To our knowledge, homosynaptic depression (i.e. the fact that motoneuron responses to Ia afferent volleys exhibit a frequency-related depression) has not been studied in parkinsonian disease, despite the fact that in spastic patients, changes in homosynaptic depression are significant... Brain journals http://www.medworm.com/rss/comments.php?id=5639427 Sat, 28 Jan 2012 05:00:00 +0100 5639427 http://www.medworm.com/index.php?rid=5639426&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F124%3Frss%3D1 There is a lack of consensus about the effects of the type of menopause (surgical or natural) and of oestrogen replacement therapy on Parkinson's disease. The effects of the timing of replacement therapy and the female's age may explain the observed differences in such effects. However, the mechanisms involved are poorly understood. The renin-angiotensin system mediates the beneficial effects of oestrogen in several tissues, and we have previously shown that dopaminergic cell loss is enhanced by angiotensin via type 1 receptors, which is activated by ageing. In rats, we compared the effects of oestrogen replacement therapy on 6-hydroxydopamine-induced dopaminergic degeneration, nigral renin-angiotensin system activity, activation of the nicotinamide adenine dinucleotide phosphate oxidase c... Brain journals http://www.medworm.com/rss/comments.php?id=5639426 Sat, 28 Jan 2012 05:00:00 +0100 5639426 http://www.medworm.com/index.php?rid=5639425&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F117%3Frss%3D1 We assessed the duration and severity of tremor in a real-life ambulatory setting in patients with psychogenic and organic tremor by actigraphy, and compared this with self-reports of tremor over the same period. Ten participants with psychogenic tremor and eight with organic tremor, diagnosed using standardized clinical criteria, were studied. In an explicit design, participants were asked to wear a small actigraph capable of continuously monitoring tremor duration and intensity for 5 days while keeping a diary of their estimates of tremor duration during the same period. Eight patients with psychogenic tremor and all patients with organic tremor completed the study. Psychogenic patients reported significantly more of the waking day with tremor compared with patients with organic tremor (... Brain journals http://www.medworm.com/rss/comments.php?id=5639425 Sat, 28 Jan 2012 05:00:00 +0100 5639425 http://www.medworm.com/index.php?rid=5639424&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F105%3Frss%3D1 The development of new treatments for essential tremor, the most frequent movement disorder, is limited by a poor understanding of its pathophysiology and the relative paucity of clinicopathological studies. Here, we report a post-mortem decrease in GABAA (35% reduction) and GABAB (22–31% reduction) receptors in the dentate nucleus of the cerebellum from individuals with essential tremor, compared with controls or individuals with Parkinson's disease, as assessed by receptor-binding autoradiography. Concentrations of GABAB receptors in the dentate nucleus were inversely correlated with the duration of essential tremor symptoms (r2 = 0.44, P < 0.05), suggesting that the loss of GABAB receptors follows the progression of the disease. In situ hybridization experiments also revealed a... Brain journals http://www.medworm.com/rss/comments.php?id=5639424 Sat, 28 Jan 2012 05:00:00 +0100 5639424 http://www.medworm.com/index.php?rid=5639423&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F88%3Frss%3D1 Previous studies in our laboratory have shown that in models for three distinct forms of the inherited and incurable nerve disorder, Charcot–Marie–Tooth neuropathy, low-grade inflammation implicating phagocytosing macrophages mediates demyelination and perturbation of axons. In the present study, we focus on colony-stimulating factor-1, a cytokine implicated in macrophage differentiation, activation and proliferation and fostering neural damage in a model for Charcot–Marie–Tooth neuropathy 1B. By crossbreeding a model for the X-linked form of Charcot–Marie–Tooth neuropathy with osteopetrotic mice, a spontaneous null mutant for colony-stimulating factor-1, we demonstrate a robust and persistent amelioration of demyelination and axon perturbation. Furtherm... Brain journals http://www.medworm.com/rss/comments.php?id=5639423 Sat, 28 Jan 2012 05:00:00 +0100 5639423 http://www.medworm.com/index.php?rid=5639422&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F72%3Frss%3D1 Charcot–Marie–Tooth disease is the most common inherited neuropathy and a duplication of the peripheral myelin protein 22 gene causes the most frequent subform Charcot–Marie–Tooth 1A. Patients develop a slowly progressive dysmyelinating and demyelinating peripheral neuropathy and distally pronounced muscle atrophy. The amount of axonal loss determines disease severity. Although patients share an identical monogenetic defect, the disease progression is strikingly variable and the impending disease course can not be predicted in individual patients. Despite promising experimental data, recent therapy trials have failed. Established clinical outcome measures are thought to be too insensitive to detect amelioration within trials. Surrogate biomarkers of disease severity... Brain journals http://www.medworm.com/rss/comments.php?id=5639422 Sat, 28 Jan 2012 05:00:00 +0100 5639422 http://www.medworm.com/index.php?rid=5639421&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F62%3Frss%3D1 Defects in the mitochondrial DNA replication enzyme, polymerase , are an important cause of mitochondrial disease with ~25% of all adult diagnoses attributed to mutations in the POLG gene. Peripheral neuronopathy is often part of the clinical syndrome and can represent the most disabling feature. In spite of this, the molecular mechanisms underlying the neuronopathy remain to be elucidated and treatment strategies are limited. In the present study, we use a combined approach comprising clinical, electrophysiological, neuropathological and molecular genetic investigations to unravel the mechanisms underpinning peripheral neuronopathy in autosomal recessive polymerase -related disease. Electrophysiological assessments documented a dorsal root ganglionopathy in all 11 cases. Of the 11 cases, ... Brain journals http://www.medworm.com/rss/comments.php?id=5639421 Sat, 28 Jan 2012 05:00:00 +0100 5639421 http://www.medworm.com/index.php?rid=5639420&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F53%3Frss%3D1 Human skeletal muscle respiratory chain defects restrict the ability of working muscle to extract oxygen from blood, and result in a hyperkinetic circulation during exercise in which oxygen delivery is excessive relative to oxygen uptake and oxygen levels within contracting muscle are abnormally high. To investigate the role of the muscle microcirculation in this anomalous circulatory response and possible implications for the regulation of muscle angiogenesis, we assessed muscle oxidative capacity during cycle exercise and determined capillary levels and distribution and vascular endothelial growth factor expression in quadriceps muscle biopsies in patients with mitochondrial myopathy attributable to heteroplasmic mitochondrial DNA mutations. We found that in patients with mitochondrial m... Brain journals http://www.medworm.com/rss/comments.php?id=5639420 Sat, 28 Jan 2012 05:00:00 +0100 5639420 http://www.medworm.com/index.php?rid=5639419&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F35%3Frss%3D1 The Harlequin mutant mouse, characterized by loss of function of apoptosis-inducing factor, represents a reliable genetic model that resembles pathologies caused by human mitochondrial complex I deficiency. Therefore, we extensively characterized the retinal morphology and function of Harlequin mice during the course of neuronal cell death leading to blindness, with the aim of preventing optic atrophy. Retinas and optic nerves from these mice showed an isolated respiratory chain complex I defect correlated with retinal ganglion cell loss, optic atrophy, glial and microglial cell activation. All of these changes led to irreversible vision loss. In control mice, retinas AIF1 messenger RNA was 2.3-fold more abundant than AIF2, both messenger RNAs being sorted to the mitochondrial surface. In ... Brain journals http://www.medworm.com/rss/comments.php?id=5639419 Sat, 28 Jan 2012 05:00:00 +0100 5639419 http://www.medworm.com/index.php?rid=5639418&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F23%3Frss%3D1 We report a large family with optic atrophy beginning in early childhood, associated with axonal neuropathy and mitochondrial myopathy in adult life. The clinical presentation looks like the autosomal dominant optic atrophy ‘plus’ phenotype linked to OPA1 mutations but is associated with a novel MFN2 missense mutation (c.629A>T, p.D210V). Multiple mitochondrial DNA deletions were found in skeletal muscle and this observation makes MFN2 a novel gene associated with ‘mitochondrial DNA breakage’ syndrome. Contrary to previous studies in patients with Charcot–Marie–Tooth disease type 2A, fibroblasts carrying the MFN2 mutation present with a respiratory chain deficiency, a fragmentation of the mitochondrial network and a significant reduction of MFN2 prote... Brain journals http://www.medworm.com/rss/comments.php?id=5639418 Sat, 28 Jan 2012 05:00:00 +0100 5639418 http://www.medworm.com/index.php?rid=5639417&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F12%3Frss%3D1 Complex I deficiency is the most frequent cause of oxidative phosphorylation disorders. The disease features a large diversity of clinical symptoms often leading to progressive encephalomyopathies with a fatal outcome. There is currently no cure, and although disease-causing mutations have been found in the genes encoding complex I subunits, half of the cases remain unexplained. However, in the past 5 years a new class of complex I disease genes has emerged with the finding of specific assembly factors. So far nine such genes have been described and it is believed that in the near future more will be found. In this review, we will address whether the functions of these chaperones point towards a general molecular mechanism of disease and whether this enables us to design a treatment for co... Brain journals http://www.medworm.com/rss/comments.php?id=5639417 Sat, 28 Jan 2012 05:00:00 +0100 5639417 http://www.medworm.com/index.php?rid=5639416&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F9%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639416 Sat, 28 Jan 2012 05:00:00 +0100 5639416 http://www.medworm.com/index.php?rid=5639415&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F4%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639415 Sat, 28 Jan 2012 05:00:00 +0100 5639415 http://www.medworm.com/index.php?rid=5639414&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F135%2F1%2F1%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5639414 Sat, 28 Jan 2012 05:00:00 +0100 5639414 http://www.medworm.com/index.php?rid=5545563&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3775%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5545563 Mon, 26 Dec 2011 05:00:00 +0100 5545563 http://www.medworm.com/index.php?rid=5545562&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3755%3Frss%3D1 John Newsom-Davis was born in 1932 and died, aged 74, in 2007. After national service in the Royal Air Force, he read Natural Sciences at Cambridge. Following clinical studies at the Middlesex Hospital, he began research into respiratory neurophysiology with Tom Sears at the National Hospital, Queen Square, in London, and spent 1 year with Fred Plum at Cornell University in New York. After neurology specialist training at Queen Square, he became the director of the Batten Unit, continuing his interest in respiratory physiology. There he began to work on myasthenia gravis in collaboration with Ricardo Miledi at University College London and in 1978, after performing the first studies on plasma exchange in that disease, he established a myasthenia gravis research group at the Royal Free Hosp... Brain journals http://www.medworm.com/rss/comments.php?id=5545562 Mon, 26 Dec 2011 05:00:00 +0100 5545562 http://www.medworm.com/index.php?rid=5545561&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3742%3Frss%3D1 Group differences in resting state functional magnetic resonance imaging connectivity between individuals with autism and typically developing controls have been widely replicated for a small number of discrete brain regions, yet the whole-brain distribution of connectivity abnormalities in autism is not well characterized. It is also unclear whether functional connectivity is sufficiently robust to be used as a diagnostic or prognostic metric in individual patients with autism. We obtained pairwise functional connectivity measurements from a lattice of 7266 regions of interest covering the entire grey matter (26.4 million connections) in a well-characterized set of 40 male adolescents and young adults with autism and 40 age-, sex- and IQ-matched typically developing subjects. A single res... Brain journals http://www.medworm.com/rss/comments.php?id=5545561 Mon, 26 Dec 2011 05:00:00 +0100 5545561 http://www.medworm.com/index.php?rid=5545560&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3728%3Frss%3D1 An impaired ability to appreciate other people's mental states is a well-established and stable cognitive deficit in schizophrenia, which might explain some aspects of patients’ social dysfunction. Yet, despite a wealth of literature on this topic, the basic mechanisms underlying these impairments are still poorly understood, and their links with the clinical dimensions of schizophrenia remain unclear. The present study aimed to investigate the extent to which patients’ impaired ability to appreciate other people's intentions (known as mentalizing) may be accounted for by abnormal interaction between the two types of information that contribute to this ability: (i) the sensory evidence conveyed by movement kinematics; and (ii) the observer's prior expectations. We hypothesized ... Brain journals http://www.medworm.com/rss/comments.php?id=5545560 Mon, 26 Dec 2011 05:00:00 +0100 5545560 http://www.medworm.com/index.php?rid=5545559&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3716%3Frss%3D1 Greater understanding of the risk factors and mechanisms of incident dementia in stroke survivors is needed for prevention and management. There is limited information on the long-term consequences and forms of incident dementia in older stroke survivors. We recruited 355 patients aged >75 years from hospital-based stroke registers into a longitudinal study 3 months after stroke. At baseline none of the patients had dementia. Patients were genotyped for apolipoprotein E and assessed annually for cognition and development of incident dementia over up to 8 years of follow-up. The effect of baseline vascular risk factors upon incidence of dementia and mortality were estimated by Cox proportional regression analyses adjusted for age and gender. Standard neuropathological examination was per... Brain journals http://www.medworm.com/rss/comments.php?id=5545559 Mon, 26 Dec 2011 05:00:00 +0100 5545559 http://www.medworm.com/index.php?rid=5545558&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3708%3Frss%3D1 The emergence of longevity in the modern world has brought a sense of urgency to understanding age-related neurodegenerative diseases such as Alzheimer's disease. Unfortunately, there is a lack of consensus regarding the correlation between the pathological substrates of neurodegeneration and dementia status, particularly in the oldest-old. To better understand the pathological correlates of dementia in the oldest-old, we characterized the topographical spread and severity of amyloid-β, tau, TDP-43 and α-synuclein pathologies in the 90+ Study, a prospective longitudinal population-based study of ageing and dementia. Neuropathological analysis with immunohistochemically labelled sections was carried out blind to clinical diagnosis on the first 108 participants of the 90+ Study wh... Brain journals http://www.medworm.com/rss/comments.php?id=5545558 Mon, 26 Dec 2011 05:00:00 +0100 5545558 http://www.medworm.com/index.php?rid=5545557&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3697%3Frss%3D1 We examined possible mechanistic interactions through use of experimental stroke models in a transgenic mouse model of β-amyloid deposition (APPswe/PS1dE9). Following middle cerebral artery occlusion, we observed a rapid increase in amyloid plaque burden in the region surrounding the infarction. In human tissue samples, however, we were unable to detect a localized increase in amyloid burden adjacent to cerebral infarcts. To resolve this discrepancy, we generated cerebral microstrokes in amyloid precursor protein mouse models with the photosensitive dye Rose bengal, and monitored plaque formation in real time using multiphoton microscopy. We observed a striking increase in the number of new plaques and amyloid angiopathy in the area immediately surrounding the infarcted area; however,... Brain journals http://www.medworm.com/rss/comments.php?id=5545557 Mon, 26 Dec 2011 05:00:00 +0100 5545557 http://www.medworm.com/index.php?rid=5545556&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3687%3Frss%3D1 This study illustrates how education counteracts the deleterious effects of cerebrovascular disease and Alzheimer's disease and highlights the importance of quantifying cognitive reserve in dementia research. (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5545556 Mon, 26 Dec 2011 05:00:00 +0100 5545556 http://www.medworm.com/index.php?rid=5545555&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3672%3Frss%3D1 The cerebellar role in non-motor functions is supported by the clinical finding that lesions confined to cerebellum produce the cerebellar cognitive affective syndrome. Nevertheless, there is no consensus regarding the overall cerebellar contribution to cognition. Among other reasons, this deficiency might be attributed to the small sample sizes and narrow breadths of existing studies on lesions in cerebellar patients, which have focused primarily on a single cognitive domain. The aim of this study was to examine the expression of cerebellar cognitive affective syndrome with regard to lesion topography in a large group of subjects with cerebellar damage. We retrospectively analysed charts from patients in the Ataxia Lab of Santa Lucia Foundation between 1997 and 2007. Of 223 charts, 156 we... Brain journals http://www.medworm.com/rss/comments.php?id=5545555 Mon, 26 Dec 2011 05:00:00 +0100 5545555 http://www.medworm.com/index.php?rid=5545554&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3662%3Frss%3D1 Horizontal head-shaking may induce nystagmus in peripheral as well as central vestibular lesions. While the patterns and mechanism of head-shaking nystagmus are well established in peripheral vestibulopathy, they require further exploration in central vestibular disorders. To define the characteristics and mechanism of head-shaking nystagmus in central vestibulopathies, we investigated spontaneous nystagmus and head-shaking nystagmus in 72 patients with isolated cerebellar infarction. Spontaneous nystagmus was observed in 28 (39%) patients, and was mostly ipsilesional when observed in unilateral infarction (15/18, 83%). Head-shaking nystagmus developed in 37 (51%) patients, and the horizontal component of head-shaking nystagmus was uniformly ipsilesional when induced in patients with unila... Brain journals http://www.medworm.com/rss/comments.php?id=5545554 Mon, 26 Dec 2011 05:00:00 +0100 5545554 http://www.medworm.com/index.php?rid=5545553&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3647%3Frss%3D1 In this study, we aimed to dissociate the neural substrates critical for correcting unexpected trajectory errors and learning to adapt future movements based on those errors. Twenty stroke patients with focal damage to frontal or parietal regions in the left or right brain hemispheres and 20 healthy controls performed a task in which a novel mapping between actual hand motion and its visual feedback was introduced. Only patients with frontal damage in the right hemisphere failed to correct for this discrepancy during the ongoing movement. However, these patients were able to adapt to the distortion such that their movement direction on subsequent trials improved. In contrast, only patients with parietal damage in the left hemisphere showed a clear deficit in movement adaptation, but not in... Brain journals http://www.medworm.com/rss/comments.php?id=5545553 Mon, 26 Dec 2011 05:00:00 +0100 5545553 http://www.medworm.com/index.php?rid=5545552&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3632%3Frss%3D1 In conclusion, the presence of pallidoreticular lesions after carbon monoxide intoxication indicates a poorer cognitive state, which is associated with extensive grey and white matter damage in addition to the damage to the nigra-striatal neuronal networks. The presence of parkinsonian features may be related to pallidal and presynaptic dopaminergic dysfunction. The sensitivity for detecting pallidoreticular lesions can be greatly improved by using susceptibility weighted imaging compared with conventional imaging. (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5545552 Mon, 26 Dec 2011 05:00:00 +0100 5545552 http://www.medworm.com/index.php?rid=5545551&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3616%3Frss%3D1 Individuals infected with human immunodeficiency virus-1 who abuse opiates can have a higher incidence of virus-associated neuropathology. Human immunodeficiency virus does not infect neurons, but viral proteins such as transactivator of transcription and glycoprotein 120, originating from infected glia, are neurotoxic. Moreover, functional changes in glial cells that enhance inflammation and reduce trophic support are increasingly implicated in human immunodeficiency virus neuropathology. In previous studies, co-exposure with morphine enhanced transactivator of transcription neurotoxicity towards cultured striatal neurons. Since those cultures contained µ-opioid receptor-expressing astroglia and microglia, and since glia are the principal site of infection in the central nervous sys... Brain journals http://www.medworm.com/rss/comments.php?id=5545551 Mon, 26 Dec 2011 05:00:00 +0100 5545551 http://www.medworm.com/index.php?rid=5545550&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3602%3Frss%3D1 Previous authors have shown that the transverse relaxivity R2* and frequency shifts that characterize gradient echo signal decay in magnetic resonance imaging are closely associated with the distribution of iron and myelin in the brain's white matter. In multiple sclerosis, iron accumulation in brain tissue may reflect a multiplicity of pathological processes. Hence, iron may have the unique potential to serve as an in vivo magnetic resonance imaging tracer of disease pathology. To investigate the ability of iron in tracking multiple sclerosis-induced pathology by magnetic resonance imaging, we performed qualitative histopathological analysis of white matter lesions and normal-appearing white matter regions with variable appearance on gradient echo magnetic resonance imaging at 7 Tesla. Th... Brain journals http://www.medworm.com/rss/comments.php?id=5545550 Mon, 26 Dec 2011 05:00:00 +0100 5545550 http://www.medworm.com/index.php?rid=5545549&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3590%3Frss%3D1 Multiple sclerosis is characterized by inflammatory demyelination and irreversible axonal injury leading to permanent neurological disabilities. Diffusion tensor imaging demonstrates an improved capability over standard magnetic resonance imaging to differentiate axon from myelin pathologies. However, the increased cellularity and vasogenic oedema associated with inflammation cannot be detected or separated from axon/myelin injury by diffusion tensor imaging, limiting its clinical applications. A novel diffusion basis spectrum imaging, capable of characterizing water diffusion properties associated with axon/myelin injury and inflammation, was developed to quantitatively reveal white matter pathologies in central nervous system disorders. Tissue phantoms made of normal fixed mouse trigemin... Brain journals http://www.medworm.com/rss/comments.php?id=5545549 Mon, 26 Dec 2011 05:00:00 +0100 5545549 http://www.medworm.com/index.php?rid=5545548&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3578%3Frss%3D1 Pro-inflammatory T cells mediate autoimmune demyelination in multiple sclerosis. However, the factors driving their development and multiple sclerosis susceptibility are incompletely understood. We investigated how micro-RNAs, newly described as post-transcriptional regulators of gene expression, contribute to pathogenic T-cell differentiation in multiple sclerosis. miR-128 and miR-27b were increased in naïve and miR-340 in memory CD4+ T cells from patients with multiple sclerosis, inhibiting Th2 cell development and favouring pro-inflammatory Th1 responses. These effects were mediated by direct suppression of B lymphoma Mo-MLV insertion region 1 homolog (BMI1) and interleukin-4 (IL4) expression, resulting in decreased GATA3 levels, and a Th2 to Th1 cytokine shift. Gain-of-function ex... Brain journals http://www.medworm.com/rss/comments.php?id=5545548 Mon, 26 Dec 2011 05:00:00 +0100 5545548 http://www.medworm.com/index.php?rid=5545547&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3560%3Frss%3D1 Clonally expanded CD8+ T lymphocytes are present in multiple sclerosis lesions, as well as in the cerebrospinal fluid of patients with multiple sclerosis. In experimental autoimmune encephalomyelitis, CD8+ T lymphocytes are found in spinal cord and brainstem lesions. However, the exact phenotype of central nervous system-infiltrating CD8+ T lymphocytes and the mechanism by which these cells cross the blood–brain barrier remain largely unknown. Using cerebrospinal fluid from patients with multiple sclerosis, spinal cord from experimental autoimmune encephalomyelitis and coronavirus-induced encephalitis, we demonstrate that central nervous system-infiltrating CD8+ T lymphocytes are mostly of the effector memory phenotype (CD62L– CCR7– granzymeBhi). We further show that puri... Brain journals http://www.medworm.com/rss/comments.php?id=5545547 Mon, 26 Dec 2011 05:00:00 +0100 5545547 http://www.medworm.com/index.php?rid=5545546&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3547%3Frss%3D1 Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. This approach aims to transform the Duchenne muscular dystrophy phenotype to that of the milder disorder, Becker muscular dystrophy, typically caused by in-frame dystrophin deletions that allow the production of an internally deleted but partially functional dystrophin. There is ongoing debate regarding the functional properties of the different internally deleted dystrophins produced by exon skipping for different mutations; more insight would be valuable to imp... Brain journals http://www.medworm.com/rss/comments.php?id=5545546 Mon, 26 Dec 2011 05:00:00 +0100 5545546 http://www.medworm.com/index.php?rid=5545545&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3530%3Frss%3D1 Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a corresponding healthy control group using structural brain magnetic resonance imaging at 3 T (T1/T2/diffusion-weighted). Voxel-based morphometry and diffusion tensor imaging with tract-based spatial statistics were applied for voxel-wise analysis of cerebral grey and white matter affection (Pcorrected < 0.05). We further examined the association of structural brain changes with clinical and neuropsychological data. White matter lesions rated visually were more prevalent and severe in myotonic dystrophy type 1 compared with controls, with fr... Brain journals http://www.medworm.com/rss/comments.php?id=5545545 Mon, 26 Dec 2011 05:00:00 +0100 5545545 http://www.medworm.com/index.php?rid=5545544&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3516%3Frss%3D1 Nemaline myopathy, the most common congenital myopathy, is caused by mutations in genes encoding thin filament and thin filament-associated proteins in skeletal muscles. Severely affected patients fail to survive beyond the first year of life due to severe muscle weakness. There are no specific therapies to combat this muscle weakness. We have generated the first knock-in mouse model for severe nemaline myopathy by replacing a normal allele of the α-skeletal actin gene with a mutated form (H40Y), which causes severe nemaline myopathy in humans. The Acta1(H40Y) mouse has severe muscle weakness manifested as shortened lifespan, significant forearm and isolated muscle weakness and decreased mobility. Muscle pathologies present in the human patients (e.g. nemaline rods, fibre atrophy and... Brain journals http://www.medworm.com/rss/comments.php?id=5545544 Mon, 26 Dec 2011 05:00:00 +0100 5545544 http://www.medworm.com/index.php?rid=5545543&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3502%3Frss%3D1 We describe the neurological, neuro-ophthalmological and neuroradiological features of 23 individuals (10 males, 13 females; ages at final examination 2–29 years) from 10 unrelated consanguineous families with carbonic anhydrase type II deficiency syndrome due to homozygous intron 2 splice site mutation (the ‘Arabic mutation’). All patients had osteopetrosis, renal tubular acidosis, developmental delay, short stature and craniofacial disproportion with large cranial vault and broad forehead. Mental retardation was present in approximately two-thirds and varied from mild to severe. General neurological examinations were unremarkable except for one patient with brisk deep tendon reflexes and two with severe mental retardation and spastic quadriparesis. Globes and retinae we... Brain journals http://www.medworm.com/rss/comments.php?id=5545543 Mon, 26 Dec 2011 05:00:00 +0100 5545543 http://www.medworm.com/index.php?rid=5545542&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3493%3Frss%3D1 Paroxysmal kinesigenic dyskinesias is a paroxysmal movement disorder characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Although several loci, including the pericentromeric region of chromosome 16, have been linked to paroxysmal kinesigenic dyskinesias, the causative gene has not yet been identified. Here, we identified proline-rich transmembrane protein 2 (PRRT2) as a causative gene of paroxysmal kinesigenic dyskinesias by using a combination of exome sequencing and linkage analysis. Genetic linkage mapping with 11 markers that encompassed the pericentromeric of chromosome 16 was performed in 27 members of two families with autosomal dominant paroxysmal kinesigenic dyskinesias. Then, the whole-exome sequencing was performed i... Brain journals http://www.medworm.com/rss/comments.php?id=5545542 Mon, 26 Dec 2011 05:00:00 +0100 5545542 http://www.medworm.com/index.php?rid=5545541&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3480%3Frss%3D1 Narcolepsy with cataplexy is characterized by daytime sleepiness, cataplexy (sudden loss of bilateral muscle tone triggered by emotions), sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. Narcolepsy with cataplexy is most often associated with human leucocyte antigen-DQB1*0602 and is caused by the loss of hypocretin-producing neurons in the hypothalamus of likely autoimmune aetiology. Noting that children with narcolepsy often display complex abnormal motor behaviours close to disease onset that do not meet the classical definition of cataplexy, we systematically analysed motor features in 39 children with narcolepsy with cataplexy in comparison with 25 age- and sex-matched healthy controls. We found that patients with narcolepsy with cataplexy displayed a complex a... Brain journals http://www.medworm.com/rss/comments.php?id=5545541 Mon, 26 Dec 2011 05:00:00 +0100 5545541 http://www.medworm.com/index.php?rid=5545540&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3470%3Frss%3D1 Amyotrophic lateral sclerosis as a system failure is a concept supported by the finding of consistent extramotor as well as motor cerebral pathology. The functional correlates of the structural changes detected using advanced magnetic resonance imaging techniques such as diffusion tensor imaging and voxel-based morphometry have not been extensively studied. A group of 25 patients with amyotrophic lateral sclerosis was compared to healthy control subjects using a multi-modal neuroimaging approach comprising T1-weighted, diffusion-weighted and resting-state functional magnetic resonance imaging. Using probabilistic tractography, a grey matter connection network was defined based upon the prominent corticospinal tract and corpus callosum involvement demonstrated by white matter tract-based sp... Brain journals http://www.medworm.com/rss/comments.php?id=5545540 Mon, 26 Dec 2011 05:00:00 +0100 5545540 http://www.medworm.com/index.php?rid=5545539&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3458%3Frss%3D1 Pathological laughing and crying is a disorder of emotional expression seen in a number of neurological diseases. The aetiology is poorly understood, but clinical descriptions suggest a disorder of emotion regulation. The goals of this study were: (i) to characterize the subjective, behavioural and physiological emotional reactions that occur during episodes of pathological laughing and crying; (ii) to compare responses during these episodes to those that occur when emotions are elicited under standard conditions (watching sad and amusing emotional films, being startled); and (iii) to examine the ability of patients with this disorder to regulate their emotions under standardized conditions. Twenty-one patients with pathological laughing and crying due to amyotrophic lateral sclerosis and ... Brain journals http://www.medworm.com/rss/comments.php?id=5545539 Mon, 26 Dec 2011 05:00:00 +0100 5545539 http://www.medworm.com/index.php?rid=5545538&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3454%3Frss%3D1 Amyotrophic lateral sclerosis is a neurodegenerative disease of motor neurons with a median survival of 2 years. Most patients have no family history of amyotrophic lateral sclerosis, but current understanding of such diseases suggests there should be an increased risk to relatives. Furthermore, it is a common question to be asked by patients and relatives in clinic. We therefore set out to determine the risk of amyotrophic lateral sclerosis to first degree relatives of patients with sporadic amyotrophic lateral sclerosis attending a specialist clinic. Case records of patients with sporadic amyotrophic lateral sclerosis seen at a tertiary referral centre over a 16-year period were reviewed, and pedigree structures extracted. All individuals who had originally presented with sporadic amyotr... Brain journals http://www.medworm.com/rss/comments.php?id=5545538 Mon, 26 Dec 2011 05:00:00 +0100 5545538 http://www.medworm.com/index.php?rid=5545537&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3435%3Frss%3D1 Cognitive impairment is a core element shared by a large number of different neurological and neuropsychiatric diseases. Irrespective of their different aetiologies and symptomatologies, most appear to converge at the functional deficiency of the auditory-frontal cortex network of auditory discrimination, which indexes cognitive impairment shared by these abnormalities. This auditory-frontal cortical deficiency, and hence cognitive decline, can now be objectively measured with the mismatch negativity and its magnetic equivalent. The auditory-frontal cortical network involved seems, therefore, to play a pivotal, unifying role in the different abnormalities. It is, however, more likely that the dysfunction that can be detected with the mismatch negativity and its magnetoencephalographic equi... Brain journals http://www.medworm.com/rss/comments.php?id=5545537 Mon, 26 Dec 2011 05:00:00 +0100 5545537 http://www.medworm.com/index.php?rid=5545536&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3431%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5545536 Mon, 26 Dec 2011 05:00:00 +0100 5545536 http://www.medworm.com/index.php?rid=5495884&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3772%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5495884 Sun, 11 Dec 2011 05:00:00 +0100 5495884 http://www.medworm.com/index.php?rid=5495883&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3752%3Frss%3D1 John Newsom-Davis was born in 1932 and died, aged 74, in 2007. After national service in the Royal Air Force, he read Natural Sciences at Cambridge. Following clinical studies at the Middlesex Hospital, he began research into respiratory neurophysiology with Tom Sears at the National Hospital, Queen Square, in London, and spent 1 year with Fred Plum at Cornell University in New York. After neurology specialist training at Queen Square, he became the director of the Batten Unit, continuing his interest in respiratory physiology. There he began to work on myasthenia gravis in collaboration with Ricardo Miledi at University College London and in 1978, after performing the first studies on plasma exchange in that disease, he established a myasthenia gravis research group at the Royal Free Hosp... Brain journals http://www.medworm.com/rss/comments.php?id=5495883 Sun, 11 Dec 2011 05:00:00 +0100 5495883 http://www.medworm.com/index.php?rid=5495882&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3739%3Frss%3D1 Group differences in resting state functional magnetic resonance imaging connectivity between individuals with autism and typically developing controls have been widely replicated for a small number of discrete brain regions, yet the whole-brain distribution of connectivity abnormalities in autism is not well characterized. It is also unclear whether functional connectivity is sufficiently robust to be used as a diagnostic or prognostic metric in individual patients with autism. We obtained pairwise functional connectivity measurements from a lattice of 7266 regions of interest covering the entire grey matter (26.4 million connections) in a well-characterized set of 40 male adolescents and young adults with autism and 40 age-, sex- and IQ-matched typically developing subjects. A single res... Brain journals http://www.medworm.com/rss/comments.php?id=5495882 Sun, 11 Dec 2011 05:00:00 +0100 5495882 http://www.medworm.com/index.php?rid=5495881&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3725%3Frss%3D1 An impaired ability to appreciate other people's mental states is a well-established and stable cognitive deficit in schizophrenia, which might explain some aspects of patients’ social dysfunction. Yet, despite a wealth of literature on this topic, the basic mechanisms underlying these impairments are still poorly understood, and their links with the clinical dimensions of schizophrenia remain unclear. The present study aimed to investigate the extent to which patients’ impaired ability to appreciate other people's intentions (known as mentalizing) may be accounted for by abnormal interaction between the two types of information that contribute to this ability: (i) the sensory evidence conveyed by movement kinematics; and (ii) the observer's prior expectations. We hypothesized ... Brain journals http://www.medworm.com/rss/comments.php?id=5495881 Sun, 11 Dec 2011 05:00:00 +0100 5495881 http://www.medworm.com/index.php?rid=5495880&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3713%3Frss%3D1 Greater understanding of the risk factors and mechanisms of incident dementia in stroke survivors is needed for prevention and management. There is limited information on the long-term consequences and forms of incident dementia in older stroke survivors. We recruited 355 patients aged >75 years from hospital-based stroke registers into a longitudinal study 3 months after stroke. At baseline none of the patients had dementia. Patients were genotyped for apolipoprotein E and assessed annually for cognition and development of incident dementia over up to 8 years of follow-up. The effect of baseline vascular risk factors upon incidence of dementia and mortality were estimated by Cox proportional regression analyses adjusted for age and gender. Standard neuropathological examination was per... Brain journals http://www.medworm.com/rss/comments.php?id=5495880 Sun, 11 Dec 2011 05:00:00 +0100 5495880 http://www.medworm.com/index.php?rid=5495879&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3705%3Frss%3D1 The emergence of longevity in the modern world has brought a sense of urgency to understanding age-related neurodegenerative diseases such as Alzheimer's disease. Unfortunately, there is a lack of consensus regarding the correlation between the pathological substrates of neurodegeneration and dementia status, particularly in the oldest-old. To better understand the pathological correlates of dementia in the oldest-old, we characterized the topographical spread and severity of amyloid-β, tau, TDP-43 and α-synuclein pathologies in the 90+ Study, a prospective longitudinal population-based study of ageing and dementia. Neuropathological analysis with immunohistochemically labelled sections was carried out blind to clinical diagnosis on the first 108 participants of the 90+ Study wh... Brain journals http://www.medworm.com/rss/comments.php?id=5495879 Sun, 11 Dec 2011 05:00:00 +0100 5495879 http://www.medworm.com/index.php?rid=5495878&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3694%3Frss%3D1 We examined possible mechanistic interactions through use of experimental stroke models in a transgenic mouse model of β-amyloid deposition (APPswe/PS1dE9). Following middle cerebral artery occlusion, we observed a rapid increase in amyloid plaque burden in the region surrounding the infarction. In human tissue samples, however, we were unable to detect a localized increase in amyloid burden adjacent to cerebral infarcts. To resolve this discrepancy, we generated cerebral microstrokes in amyloid precursor protein mouse models with the photosensitive dye Rose bengal, and monitored plaque formation in real time using multiphoton microscopy. We observed a striking increase in the number of new plaques and amyloid angiopathy in the area immediately surrounding the infarcted area; however,... Brain journals http://www.medworm.com/rss/comments.php?id=5495878 Sun, 11 Dec 2011 05:00:00 +0100 5495878 http://www.medworm.com/index.php?rid=5495877&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3684%3Frss%3D1 This study illustrates how education counteracts the deleterious effects of cerebrovascular disease and Alzheimer's disease and highlights the importance of quantifying cognitive reserve in dementia research. (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5495877 Sun, 11 Dec 2011 05:00:00 +0100 5495877 http://www.medworm.com/index.php?rid=5495876&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3669%3Frss%3D1 The cerebellar role in non-motor functions is supported by the clinical finding that lesions confined to cerebellum produce the cerebellar cognitive affective syndrome. Nevertheless, there is no consensus regarding the overall cerebellar contribution to cognition. Among other reasons, this deficiency might be attributed to the small sample sizes and narrow breadths of existing studies on lesions in cerebellar patients, which have focused primarily on a single cognitive domain. The aim of this study was to examine the expression of cerebellar cognitive affective syndrome with regard to lesion topography in a large group of subjects with cerebellar damage. We retrospectively analysed charts from patients in the Ataxia Lab of Santa Lucia Foundation between 1997 and 2007. Of 223 charts, 156 we... Brain journals http://www.medworm.com/rss/comments.php?id=5495876 Sun, 11 Dec 2011 05:00:00 +0100 5495876 http://www.medworm.com/index.php?rid=5495875&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3659%3Frss%3D1 Horizontal head-shaking may induce nystagmus in peripheral as well as central vestibular lesions. While the patterns and mechanism of head-shaking nystagmus are well established in peripheral vestibulopathy, they require further exploration in central vestibular disorders. To define the characteristics and mechanism of head-shaking nystagmus in central vestibulopathies, we investigated spontaneous nystagmus and head-shaking nystagmus in 72 patients with isolated cerebellar infarction. Spontaneous nystagmus was observed in 28 (39%) patients, and was mostly ipsilesional when observed in unilateral infarction (15/18, 83%). Head-shaking nystagmus developed in 37 (51%) patients, and the horizontal component of head-shaking nystagmus was uniformly ipsilesional when induced in patients with unila... Brain journals http://www.medworm.com/rss/comments.php?id=5495875 Sun, 11 Dec 2011 05:00:00 +0100 5495875 http://www.medworm.com/index.php?rid=5495874&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3644%3Frss%3D1 In this study, we aimed to dissociate the neural substrates critical for correcting unexpected trajectory errors and learning to adapt future movements based on those errors. Twenty stroke patients with focal damage to frontal or parietal regions in the left or right brain hemispheres and 20 healthy controls performed a task in which a novel mapping between actual hand motion and its visual feedback was introduced. Only patients with frontal damage in the right hemisphere failed to correct for this discrepancy during the ongoing movement. However, these patients were able to adapt to the distortion such that their movement direction on subsequent trials improved. In contrast, only patients with parietal damage in the left hemisphere showed a clear deficit in movement adaptation, but not in... Brain journals http://www.medworm.com/rss/comments.php?id=5495874 Sun, 11 Dec 2011 05:00:00 +0100 5495874 http://www.medworm.com/index.php?rid=5495873&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3629%3Frss%3D1 In conclusion, the presence of pallidoreticular lesions after carbon monoxide intoxication indicates a poorer cognitive state, which is associated with extensive grey and white matter damage in addition to the damage to the nigra-striatal neuronal networks. The presence of parkinsonian features may be related to pallidal and presynaptic dopaminergic dysfunction. The sensitivity for detecting pallidoreticular lesions can be greatly improved by using susceptibility weighted imaging compared with conventional imaging. (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5495873 Sun, 11 Dec 2011 05:00:00 +0100 5495873 http://www.medworm.com/index.php?rid=5495872&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3613%3Frss%3D1 Individuals infected with human immunodeficiency virus-1 who abuse opiates can have a higher incidence of virus-associated neuropathology. Human immunodeficiency virus does not infect neurons, but viral proteins such as transactivator of transcription and glycoprotein 120, originating from infected glia, are neurotoxic. Moreover, functional changes in glial cells that enhance inflammation and reduce trophic support are increasingly implicated in human immunodeficiency virus neuropathology. In previous studies, co-exposure with morphine enhanced transactivator of transcription neurotoxicity towards cultured striatal neurons. Since those cultures contained µ-opioid receptor-expressing astroglia and microglia, and since glia are the principal site of infection in the central nervous sys... Brain journals http://www.medworm.com/rss/comments.php?id=5495872 Sun, 11 Dec 2011 05:00:00 +0100 5495872 http://www.medworm.com/index.php?rid=5495871&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3599%3Frss%3D1 Previous authors have shown that the transverse relaxivity R2* and frequency shifts that characterize gradient echo signal decay in magnetic resonance imaging are closely associated with the distribution of iron and myelin in the brain's white matter. In multiple sclerosis, iron accumulation in brain tissue may reflect a multiplicity of pathological processes. Hence, iron may have the unique potential to serve as an in vivo magnetic resonance imaging tracer of disease pathology. To investigate the ability of iron in tracking multiple sclerosis-induced pathology by magnetic resonance imaging, we performed qualitative histopathological analysis of white matter lesions and normal-appearing white matter regions with variable appearance on gradient echo magnetic resonance imaging at 7 Tesla. Th... Brain journals http://www.medworm.com/rss/comments.php?id=5495871 Sun, 11 Dec 2011 05:00:00 +0100 5495871 http://www.medworm.com/index.php?rid=5495870&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3587%3Frss%3D1 Multiple sclerosis is characterized by inflammatory demyelination and irreversible axonal injury leading to permanent neurological disabilities. Diffusion tensor imaging demonstrates an improved capability over standard magnetic resonance imaging to differentiate axon from myelin pathologies. However, the increased cellularity and vasogenic oedema associated with inflammation cannot be detected or separated from axon/myelin injury by diffusion tensor imaging, limiting its clinical applications. A novel diffusion basis spectrum imaging, capable of characterizing water diffusion properties associated with axon/myelin injury and inflammation, was developed to quantitatively reveal white matter pathologies in central nervous system disorders. Tissue phantoms made of normal fixed mouse trigemin... Brain journals http://www.medworm.com/rss/comments.php?id=5495870 Sun, 11 Dec 2011 05:00:00 +0100 5495870 http://www.medworm.com/index.php?rid=5495869&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3575%3Frss%3D1 Pro-inflammatory T cells mediate autoimmune demyelination in multiple sclerosis. However, the factors driving their development and multiple sclerosis susceptibility are incompletely understood. We investigated how micro-RNAs, newly described as post-transcriptional regulators of gene expression, contribute to pathogenic T-cell differentiation in multiple sclerosis. miR-128 and miR-27b were increased in naïve and miR-340 in memory CD4+ T cells from patients with multiple sclerosis, inhibiting Th2 cell development and favouring pro-inflammatory Th1 responses. These effects were mediated by direct suppression of B lymphoma Mo-MLV insertion region 1 homolog (BMI1) and interleukin-4 (IL4) expression, resulting in decreased GATA3 levels, and a Th2 to Th1 cytokine shift. Gain-of-function ex... Brain journals http://www.medworm.com/rss/comments.php?id=5495869 Sun, 11 Dec 2011 05:00:00 +0100 5495869 http://www.medworm.com/index.php?rid=5495868&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3557%3Frss%3D1 Clonally expanded CD8+ T lymphocytes are present in multiple sclerosis lesions, as well as in the cerebrospinal fluid of patients with multiple sclerosis. In experimental autoimmune encephalomyelitis, CD8+ T lymphocytes are found in spinal cord and brainstem lesions. However, the exact phenotype of central nervous system-infiltrating CD8+ T lymphocytes and the mechanism by which these cells cross the blood–brain barrier remain largely unknown. Using cerebrospinal fluid from patients with multiple sclerosis, spinal cord from experimental autoimmune encephalomyelitis and coronavirus-induced encephalitis, we demonstrate that central nervous system-infiltrating CD8+ T lymphocytes are mostly of the effector memory phenotype (CD62L– CCR7– granzymeBhi). We further show that puri... Brain journals http://www.medworm.com/rss/comments.php?id=5495868 Sun, 11 Dec 2011 05:00:00 +0100 5495868 http://www.medworm.com/index.php?rid=5495867&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3544%3Frss%3D1 Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. This approach aims to transform the Duchenne muscular dystrophy phenotype to that of the milder disorder, Becker muscular dystrophy, typically caused by in-frame dystrophin deletions that allow the production of an internally deleted but partially functional dystrophin. There is ongoing debate regarding the functional properties of the different internally deleted dystrophins produced by exon skipping for different mutations; more insight would be valuable to imp... Brain journals http://www.medworm.com/rss/comments.php?id=5495867 Sun, 11 Dec 2011 05:00:00 +0100 5495867 http://www.medworm.com/index.php?rid=5495866&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3527%3Frss%3D1 Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a corresponding healthy control group using structural brain magnetic resonance imaging at 3 T (T1/T2/diffusion-weighted). Voxel-based morphometry and diffusion tensor imaging with tract-based spatial statistics were applied for voxel-wise analysis of cerebral grey and white matter affection (Pcorrected < 0.05). We further examined the association of structural brain changes with clinical and neuropsychological data. White matter lesions rated visually were more prevalent and severe in myotonic dystrophy type 1 compared with controls, with fr... Brain journals http://www.medworm.com/rss/comments.php?id=5495866 Sun, 11 Dec 2011 05:00:00 +0100 5495866 http://www.medworm.com/index.php?rid=5495865&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3513%3Frss%3D1 Nemaline myopathy, the most common congenital myopathy, is caused by mutations in genes encoding thin filament and thin filament-associated proteins in skeletal muscles. Severely affected patients fail to survive beyond the first year of life due to severe muscle weakness. There are no specific therapies to combat this muscle weakness. We have generated the first knock-in mouse model for severe nemaline myopathy by replacing a normal allele of the α-skeletal actin gene with a mutated form (H40Y), which causes severe nemaline myopathy in humans. The Acta1(H40Y) mouse has severe muscle weakness manifested as shortened lifespan, significant forearm and isolated muscle weakness and decreased mobility. Muscle pathologies present in the human patients (e.g. nemaline rods, fibre atrophy and... Brain journals http://www.medworm.com/rss/comments.php?id=5495865 Sun, 11 Dec 2011 05:00:00 +0100 5495865 http://www.medworm.com/index.php?rid=5495864&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3499%3Frss%3D1 We describe the neurological, neuro-ophthalmological and neuroradiological features of 23 individuals (10 males, 13 females; ages at final examination 2–29 years) from 10 unrelated consanguineous families with carbonic anhydrase type II deficiency syndrome due to homozygous intron 2 splice site mutation (the ‘Arabic mutation’). All patients had osteopetrosis, renal tubular acidosis, developmental delay, short stature and craniofacial disproportion with large cranial vault and broad forehead. Mental retardation was present in approximately two-thirds and varied from mild to severe. General neurological examinations were unremarkable except for one patient with brisk deep tendon reflexes and two with severe mental retardation and spastic quadriparesis. Globes and retinae we... Brain journals http://www.medworm.com/rss/comments.php?id=5495864 Sun, 11 Dec 2011 05:00:00 +0100 5495864 http://www.medworm.com/index.php?rid=5495863&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3490%3Frss%3D1 Paroxysmal kinesigenic dyskinesias is a paroxysmal movement disorder characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Although several loci, including the pericentromeric region of chromosome 16, have been linked to paroxysmal kinesigenic dyskinesias, the causative gene has not yet been identified. Here, we identified proline-rich transmembrane protein 2 (PRRT2) as a causative gene of paroxysmal kinesigenic dyskinesias by using a combination of exome sequencing and linkage analysis. Genetic linkage mapping with 11 markers that encompassed the pericentromeric of chromosome 16 was performed in 27 members of two families with autosomal dominant paroxysmal kinesigenic dyskinesias. Then, the whole-exome sequencing was performed i... Brain journals http://www.medworm.com/rss/comments.php?id=5495863 Sun, 11 Dec 2011 05:00:00 +0100 5495863 http://www.medworm.com/index.php?rid=5495862&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3477%3Frss%3D1 Narcolepsy with cataplexy is characterized by daytime sleepiness, cataplexy (sudden loss of bilateral muscle tone triggered by emotions), sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. Narcolepsy with cataplexy is most often associated with human leucocyte antigen-DQB1*0602 and is caused by the loss of hypocretin-producing neurons in the hypothalamus of likely autoimmune aetiology. Noting that children with narcolepsy often display complex abnormal motor behaviours close to disease onset that do not meet the classical definition of cataplexy, we systematically analysed motor features in 39 children with narcolepsy with cataplexy in comparison with 25 age- and sex-matched healthy controls. We found that patients with narcolepsy with cataplexy displayed a complex a... Brain journals http://www.medworm.com/rss/comments.php?id=5495862 Sun, 11 Dec 2011 05:00:00 +0100 5495862 http://www.medworm.com/index.php?rid=5495861&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3467%3Frss%3D1 Amyotrophic lateral sclerosis as a system failure is a concept supported by the finding of consistent extramotor as well as motor cerebral pathology. The functional correlates of the structural changes detected using advanced magnetic resonance imaging techniques such as diffusion tensor imaging and voxel-based morphometry have not been extensively studied. A group of 25 patients with amyotrophic lateral sclerosis was compared to healthy control subjects using a multi-modal neuroimaging approach comprising T1-weighted, diffusion-weighted and resting-state functional magnetic resonance imaging. Using probabilistic tractography, a grey matter connection network was defined based upon the prominent corticospinal tract and corpus callosum involvement demonstrated by white matter tract-based sp... Brain journals http://www.medworm.com/rss/comments.php?id=5495861 Sun, 11 Dec 2011 05:00:00 +0100 5495861 http://www.medworm.com/index.php?rid=5495860&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3455%3Frss%3D1 Pathological laughing and crying is a disorder of emotional expression seen in a number of neurological diseases. The aetiology is poorly understood, but clinical descriptions suggest a disorder of emotion regulation. The goals of this study were: (i) to characterize the subjective, behavioural and physiological emotional reactions that occur during episodes of pathological laughing and crying; (ii) to compare responses during these episodes to those that occur when emotions are elicited under standard conditions (watching sad and amusing emotional films, being startled); and (iii) to examine the ability of patients with this disorder to regulate their emotions under standardized conditions. Twenty-one patients with pathological laughing and crying due to amyotrophic lateral sclerosis and ... Brain journals http://www.medworm.com/rss/comments.php?id=5495860 Sun, 11 Dec 2011 05:00:00 +0100 5495860 http://www.medworm.com/index.php?rid=5495859&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3451%3Frss%3D1 Amyotrophic lateral sclerosis is a neurodegenerative disease of motor neurons with a median survival of 2 years. Most patients have no family history of amyotrophic lateral sclerosis, but current understanding of such diseases suggests there should be an increased risk to relatives. Furthermore, it is a common question to be asked by patients and relatives in clinic. We therefore set out to determine the risk of amyotrophic lateral sclerosis to first degree relatives of patients with sporadic amyotrophic lateral sclerosis attending a specialist clinic. Case records of patients with sporadic amyotrophic lateral sclerosis seen at a tertiary referral centre over a 16-year period were reviewed, and pedigree structures extracted. All individuals who had originally presented with sporadic amyotr... Brain journals http://www.medworm.com/rss/comments.php?id=5495859 Sun, 11 Dec 2011 05:00:00 +0100 5495859 http://www.medworm.com/index.php?rid=5495858&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3432%3Frss%3D1 Cognitive impairment is a core element shared by a large number of different neurological and neuropsychiatric diseases. Irrespective of their different aetiologies and symptomatologies, most appear to converge at the functional deficiency of the auditory-frontal cortex network of auditory discrimination, which indexes cognitive impairment shared by these abnormalities. This auditory-frontal cortical deficiency, and hence cognitive decline, can now be objectively measured with the mismatch negativity and its magnetic equivalent. The auditory-frontal cortical network involved seems, therefore, to play a pivotal, unifying role in the different abnormalities. It is, however, more likely that the dysfunction that can be detected with the mismatch negativity and its magnetoencephalographic equi... Brain journals http://www.medworm.com/rss/comments.php?id=5495858 Sun, 11 Dec 2011 05:00:00 +0100 5495858 http://www.medworm.com/index.php?rid=5495857&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3429%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5495857 Sun, 11 Dec 2011 05:00:00 +0100 5495857 http://www.medworm.com/index.php?rid=5495856&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3424%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5495856 Sun, 11 Dec 2011 05:00:00 +0100 5495856 http://www.medworm.com/index.php?rid=5495855&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F12%2F3421%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5495855 Sun, 11 Dec 2011 05:00:00 +0100 5495855 http://www.medworm.com/index.php?rid=5389740&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3417%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389740 Wed, 09 Nov 2011 05:00:00 +0100 5389740 http://www.medworm.com/index.php?rid=5389739&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3408%3Frss%3D1 Computed tomography perfusion imaging in acute stroke requires further validation. We aimed to establish the optimal computed tomography perfusion parameters defining the infarct core and critically hypoperfused tissue. Sub-6-h computed tomography perfusion and 24-h magnetic resonance imaging were analysed from 314 consecutive patients with ischaemic stroke. Diffusion-weighted imaging lesion volume at 24 h was used to define the extent of critically hypoperfused tissue (in patients without reperfusion between acute and 24-h time points), and infarct core (in patients with major reperfusion at 24 h). Pixel-based analysis of co-registered computed tomography perfusion and diffusion-weighted imaging was then used to define the optimum computed tomography perfusion thresholds for critically hy... Brain journals http://www.medworm.com/rss/comments.php?id=5389739 Wed, 09 Nov 2011 05:00:00 +0100 5389739 http://www.medworm.com/index.php?rid=5389738&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3398%3Frss%3D1 Aortic stiffness increases with age and vascular risk factor exposure and is associated with increased risk for structural and functional abnormalities in the brain. High ambient flow and low impedance are thought to sensitize the cerebral microcirculation to harmful effects of excessive pressure and flow pulsatility. However, haemodynamic mechanisms contributing to structural brain lesions and cognitive impairment in the presence of high aortic stiffness remain unclear. We hypothesized that disproportionate stiffening of the proximal aorta as compared with the carotid arteries reduces wave reflection at this important interface and thereby facilitates transmission of excessive pulsatile energy into the cerebral microcirculation, leading to microvascular damage and impaired function. To as... Brain journals http://www.medworm.com/rss/comments.php?id=5389738 Wed, 09 Nov 2011 05:00:00 +0100 5389738 http://www.medworm.com/index.php?rid=5389737&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3384%3Frss%3D1 Cerebral small vessel disease-related brain lesions such as white matter lesions and lacunes are common findings of magnetic resonance imaging in the elderly. These lesions are thought to be major contributors to disability in old age, and risk factors that include age and hypertension have been established. The radiological, histopathologic and clinical phenotypes of age-related cerebral small vessel disease remarkably resemble autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy, which is caused by mutations in NOTCH3. We hypothesized that genetic variations in NOTCH3 also play a role in age-related cerebral small vessel disease. We directly sequenced all 33 exons, the promoter and 3'-untranslated region of NOTCH3 in 195 participants with either coalescent wh... Brain journals http://www.medworm.com/rss/comments.php?id=5389737 Wed, 09 Nov 2011 05:00:00 +0100 5389737 http://www.medworm.com/index.php?rid=5389736&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3369%3Frss%3D1 Mutations in solute carrier family 9 isoform 6 on chromosome Xq26.3 encoding sodium–hydrogen exchanger 6, a protein mainly expressed in early and recycling endosomes are known to cause a complex and slowly progressive degenerative human neurological disease. Three resulting phenotypes have so far been reported: an X-linked Angelman syndrome-like condition, Christianson syndrome and corticobasal degeneration with tau deposition, with each characterized by severe intellectual disability, epilepsy, autistic behaviour and ataxia. Hypothesizing that a sodium–hydrogen exchanger 6 deficiency would most likely disrupt the endosomal–lysosomal system of neurons, we examined Slc9a6 knockout mice with tissue staining and related techniques commonly used to study lysosomal storage dis... Brain journals http://www.medworm.com/rss/comments.php?id=5389736 Wed, 09 Nov 2011 05:00:00 +0100 5389736 http://www.medworm.com/index.php?rid=5389735&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3355%3Frss%3D1 Fragile X syndrome is the most common cause of inherited intellectual impairment and the most common single-gene cause of autism. Individuals with fragile X syndrome present with a neurobehavioural phenotype that includes selective deficits in spatiotemporal visual perception associated with neural processing in frontal–parietal networks of the brain. The goal of the current study was to examine whether reduced resolution of spatial and/or temporal visual attention may underlie perceptual deficits related to fragile X syndrome. Eye tracking was used to psychophysically measure the limits of spatial and temporal attention in infants with fragile X syndrome and age-matched neurotypically developing infants. Results from these experiments revealed that infants with fragile X syndrome ex... Brain journals http://www.medworm.com/rss/comments.php?id=5389735 Wed, 09 Nov 2011 05:00:00 +0100 5389735 http://www.medworm.com/index.php?rid=5389734&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3342%3Frss%3D1 Megalencephalic leucoencephalopathy with subcortical cysts is a genetic brain disorder with onset in early childhood. Affected infants develop macrocephaly within the first year of life, after several years followed by slowly progressive, incapacitating cerebellar ataxia and spasticity. From early on, magnetic resonance imaging shows diffuse signal abnormality and swelling of the cerebral white matter, with evidence of highly increased white matter water content. In most patients, the disease is caused by mutations in the gene MLC1, which encodes a plasma membrane protein almost exclusively expressed in brain and at lower levels in leucocytes. Within the brain, MLC1 is mainly located in astrocyte–astrocyte junctions adjacent to the blood–brain and cereborspinal fluid–brai... Brain journals http://www.medworm.com/rss/comments.php?id=5389734 Wed, 09 Nov 2011 05:00:00 +0100 5389734 http://www.medworm.com/index.php?rid=5389733&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3333%3Frss%3D1 In conclusion, the disease process in leucoencephalopathy with brainstem and spinal cord involvement and elevated lactate is extremely slow. We hypothesize that diffusion restriction is the first stage of the disease caused by intramyelinic water accumulation, followed by slow shift and then loss of the surplus of water. On conventional T2 images this leads to improvement. We hypothesize that it is loss of water rather than structural restoration that causes the change in T2 signal intensity, which would be in better agreement with the slow clinical deterioration. (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389733 Wed, 09 Nov 2011 05:00:00 +0100 5389733 http://www.medworm.com/index.php?rid=5389732&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3326%3Frss%3D1 Mitochondrial neurogastrointestinal encephalomyopathy is a rare multisystemic autosomic recessive disorder characterized by: onset typically before the age of 30 years; ptosis; progressive external ophthalmoplegia; gastrointestinal dysmotility; cachexia; peripheral neuropathy; and leucoencephalopathy. The disease is caused by mutations in the TYMP gene encoding thymidine phosphorylasethymine phosphorylase. Anecdotal reports suggest that allogeneic haematopoetic stem cell transplantation may be beneficial for mitochondrial neurogastrointestinal encephalomyopathy, but is associated with a high mortality. After selecting patients who fulfilled the clinical criteria for mitochondrial neurogastrointestinal encephalomyopathy and had severe thymidine phosphorylase deficiency in the buffy coat (&l... Brain journals http://www.medworm.com/rss/comments.php?id=5389732 Wed, 09 Nov 2011 05:00:00 +0100 5389732 http://www.medworm.com/index.php?rid=5389731&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3310%3Frss%3D1 The neural mechanisms underlying spatial neglect are still disputed. Abnormal left parietal hyperactivation is proposed to lead to the rightward attentional bias, a clinical hallmark of neglect. Extinction, another deficit of visuospatial attention, is regarded as either a ‘mild’ form of neglect or a distinct syndrome. Although both neglect and extinction are typical syndromes of acute right hemispheric stroke, all imaging studies investigating these syndromes were conducted at least several weeks after stroke onset, in a phase when brain reorganization has already progressed. The present study aimed at comparing the activation patterns in acute stroke patients with neglect and extinction during visuospatial processing. Using functional magnetic resonance imaging, we examined t... Brain journals http://www.medworm.com/rss/comments.php?id=5389731 Wed, 09 Nov 2011 05:00:00 +0100 5389731 http://www.medworm.com/index.php?rid=5389730&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3299%3Frss%3D1 The exact pathogenesis of visual hallucinations in Parkinson's disease is not known but an integrated model has been proposed that includes impaired visual input and central visual processing, impaired brainstem regulation of sleep–wake cycle with fluctuating vigilance, intrusion of rapid eye movement dream imagery into wakefulness and emergence of internally generated imagery, cognitive dysfunction and influence of dopaminergic drugs. In a clinical study, we assessed motor and non-motor function, including sleep, mood, autonomic and global, frontal and visuoperceptive cognitive function in patients with and without visual hallucinations. A subgroup of patients underwent detailed ophthalmological assessment. In a separate pathological study, histological specimens were obtained from ... Brain journals http://www.medworm.com/rss/comments.php?id=5389730 Wed, 09 Nov 2011 05:00:00 +0100 5389730 http://www.medworm.com/index.php?rid=5389729&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3290%3Frss%3D1 Parkinson's disease is a relentlessly progressive neurodegenerative disease. Breakdown of compensatory mechanisms influencing putaminal dopamine processing could contribute to the progressive motor symptoms. We studied a cohort of 78 subjects (at baseline) with sporadic Parkinson's disease and 35 healthy controls with multi-tracer positron emission tomography scans to investigate the evolution of adaptive mechanisms influencing striatal dopamine processing in Parkinson's disease progression. Presynaptic dopaminergic integrity was assessed with three radioligands: (i) [11C](±)dihydrotetrabenazine, to estimate the density of vesicular monoamine transporter type 2; (ii) [11C]d-threo-methylphenidate, to label the dopamine transporter; and (iii) 6-[18F]fluoro-l-DOPA, to assess the activi... Brain journals http://www.medworm.com/rss/comments.php?id=5389729 Wed, 09 Nov 2011 05:00:00 +0100 5389729 http://www.medworm.com/index.php?rid=5389728&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3276%3Frss%3D1 In this study, we transplanted murine foetal ventral mesencephalic cells into rats rendered hemiparkinsonian by 6-hydroxydopamine injection. Three months after transplantation, extracellular and local field potential recordings were taken under urethane anaesthesia from the substantia nigra pars reticulata and subthalamic nucleus along with cortical electroencephalograms and were compared to recordings from normal and hemiparkinsonian controls. Recordings from cortical slow-wave activity and global activation states were analysed separately. Rats with histologically confirmed xenografts showed behavioural improvement measured by counting apomorphine-induced rotations and with the extended body axis test. Firing rates in both nuclei were not significantly different between control and graft... Brain journals http://www.medworm.com/rss/comments.php?id=5389728 Wed, 09 Nov 2011 05:00:00 +0100 5389728 http://www.medworm.com/index.php?rid=5389727&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3264%3Frss%3D1 Patients with corticobasal degeneration can present with several different clinical syndromes, making ante-mortem diagnosis a challenge. Corticobasal syndrome is the clinical phenotype originally described for corticobasal degeneration, characterized by asymmetric rigidity and apraxia, cortical sensory deficits, dystonia and myoclonus. Some patients do not develop these features, but instead have clinical features consistent with the Richardson syndrome presentation of progressive supranuclear palsy, characterized by postural instability, early unexplained falls, vertical supranuclear gaze palsy, symmetric motor disability and dysphagia. The aim of this study was to identify differences in corticobasal degeneration presenting with corticobasal syndrome (n = 11) or Richardson syndrome (n = ... Brain journals http://www.medworm.com/rss/comments.php?id=5389727 Wed, 09 Nov 2011 05:00:00 +0100 5389727 http://www.medworm.com/index.php?rid=5389726&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3249%3Frss%3D1 In this study, we examined the subventricular zone of 10 patients with Parkinson's disease and 10 age- and sex-matched controls for proliferation and neural stem cell numbers. We also included five cases with incidental Lewy body disease, which showed Parkinson's disease pathology but no clinical symptoms and thus did not receive dopaminergic treatment. We quantified the neural stem cell number and proliferative capacity in the subventricular zone of these three donor groups. We found subventricular neural stem cells in each donor, with a high variation in number. We did not observe significant differences in neural stem cell number or in proliferation between the groups. Additionally, we were able to culture neural stem cells from post-mortem brain of several patients with Parkinson's dis... Brain journals http://www.medworm.com/rss/comments.php?id=5389726 Wed, 09 Nov 2011 05:00:00 +0100 5389726 http://www.medworm.com/index.php?rid=5389725&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3236%3Frss%3D1 It has been well established that maternal inflammation during pregnancy alters neurological function in the offspring, but its impact on cortical development and long-term consequences on the cytoarchitecture is largely unstudied. Here we report that lipopolysaccharide-induced systemic maternal inflammation in C57Bl/6 mice at embryonic Day 13.5 of pregnancy, as early as 8 h after challenge, caused a significant reduction in cell proliferation in the ventricular zone of the developing cerebral cortex, as revealed by quantification of anti-phospho-Histone H3 immunoreactivity and bromodeoxyuridine pulse labelling. The angle of mitotic cleavage, determined from analysis of haematoxylin and eosin staining, cyclin E1 gene expression and the pattern of β-catenin immunoreactivity were also a... Brain journals http://www.medworm.com/rss/comments.php?id=5389725 Wed, 09 Nov 2011 05:00:00 +0100 5389725 http://www.medworm.com/index.php?rid=5389724&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3222%3Frss%3D1 Diabetic neuropathy is a common complication of diabetes. While multiple pathways are implicated in the pathophysiology of diabetic neuropathy, there are no specific treatments and no means to predict diabetic neuropathy onset or progression. Here, we identify gene expression signatures related to diabetic neuropathy and develop computational classification models of diabetic neuropathy progression. Microarray experiments were performed on 50 samples of human sural nerves collected during a 52-week clinical trial. A series of bioinformatics analyses identified differentially expressed genes and their networks and biological pathways potentially responsible for the progression of diabetic neuropathy. We identified 532 differentially expressed genes between patient samples with progressing o... Brain journals http://www.medworm.com/rss/comments.php?id=5389724 Wed, 09 Nov 2011 05:00:00 +0100 5389724 http://www.medworm.com/index.php?rid=5389723&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3209%3Frss%3D1 Distal sensory polyneuropathy is a frequent complication of lentivirus infections of the peripheral nervous system including both human immunodeficiency virus and feline immunodeficiency virus. Proteinase-activated receptors are G protein-coupled receptors implicated in the pathogenesis of neuroinflammation and neurodegeneration. Proteinase-activated receptor-1 is expressed on different cell types within the nervous system including neurons and glia, but little is known about its role in the pathogenesis of inflammatory peripheral nerve diseases, particularly lentivirus-related distal sensory polyneuropathy. Herein, the expression and functions of proteinase-activated receptor-1 in the peripheral nervous system during human immunodeficiency virus and feline immunodeficiency virus infection... Brain journals http://www.medworm.com/rss/comments.php?id=5389723 Wed, 09 Nov 2011 05:00:00 +0100 5389723 http://www.medworm.com/index.php?rid=5389722&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3198%3Frss%3D1 The Riley–Day syndrome is the most common of the hereditary sensory and autonomic neuropathies (Type III). Among the well-recognized clinical features are reduced pain and temperature sensation, absent deep tendon reflexes and a progressively ataxic gait. To explain the latter we tested the hypothesis that muscle spindles, or their afferents, are absent in hereditary sensory and autonomic neuropathy III by attempting to record from muscle spindle afferents from a nerve supplying the leg in 10 patients. For comparison we also recorded muscle spindles from 15 healthy subjects and from two patients with hereditary sensory and autonomic neuropathy IV, who have profound sensory disturbances but no ataxia. Tungsten microelectrodes were inserted percutaneously into fascicles of the common p... Brain journals http://www.medworm.com/rss/comments.php?id=5389722 Wed, 09 Nov 2011 05:00:00 +0100 5389722 http://www.medworm.com/index.php?rid=5389721&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3185%3Frss%3D1 Spinal muscular atrophy is distinct among neurodegenerative conditions of the motor neuron, with onset in developing and maturing patients. Furthermore, the rate of degeneration appears to slow over time, at least in the milder forms. To investigate disease pathophysiology and potential adaptations, the present study utilized axonal excitability studies to provide insights into axonal biophysical properties and explored correlation with clinical severity. Multiple excitability indices (stimulus–response curve, strength–duration time constant, threshold electrotonus, current–threshold relationship and recovery cycle) were investigated in 25 genetically characterized adolescent and adult patients with spinal muscular atrophy, stimulating the median motor nerve at the wrist.... Brain journals http://www.medworm.com/rss/comments.php?id=5389721 Wed, 09 Nov 2011 05:00:00 +0100 5389721 http://www.medworm.com/index.php?rid=5389720&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3176%3Frss%3D1 This study confirms that sporadic inclusion body myositis is slowly progressive but not lethal and that immunosuppressive treatments do not ameliorate its natural course, thus confirming findings from smaller studies. Furthermore, our findings suggest that immunosuppressant drug therapy could have modestly exacerbated progression of disability. The sporadic inclusion body myositis weakness composite index might be a valuable outcome measure for future clinical trials, but requires further assessment and validation. (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389720 Wed, 09 Nov 2011 05:00:00 +0100 5389720 http://www.medworm.com/index.php?rid=5389719&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3167%3Frss%3D1 Sporadic inclusion body myositis is considered to be a slowly progressive myopathy. Long-term follow-up data are, however, not yet available. Follow-up data are important with a view to informing patients about their prognosis and selecting appropriate outcome measures for clinical trials. We performed a follow-up study of 64 patients with sporadic inclusion body myositis who participated in a national epidemiological study in the Netherlands. Case histories were recorded, and manual and quantitative muscle tests as well as laboratory tests were performed at baseline and 12 years (median) after the first out-patient visit. Date and cause of death were recorded for all deceased patients. Forty-six patients died during the follow-up period, two patients chose not to participate and one patie... Brain journals http://www.medworm.com/rss/comments.php?id=5389719 Wed, 09 Nov 2011 05:00:00 +0100 5389719 http://www.medworm.com/index.php?rid=5389718&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3146%3Frss%3D1 Diagnosis of neurological and psychiatric conditions associated with disturbances of dopaminergic functioning can be challenging, especially in the early stages, and may be assisted with biomarkers such as dopamine system imaging. Distinguishing between Alzheimer’s disease and dementia with Lewy bodies is a major diagnostic challenge. Clinical diagnosis of Parkinson’s disease is straightforward with classic presentation, but accurate distinction among Parkinsonian variants may be difficult; non-Parkinson’s disease conditions are commonly misdiagnosed as Parkinson’s disease, and ~20% of patients with Parkinson’s disease are not clinically diagnosed despite coming to medical attention. Early and accurate diagnosis is desirable to improve management. Imaging of t... Brain journals http://www.medworm.com/rss/comments.php?id=5389718 Wed, 09 Nov 2011 05:00:00 +0100 5389718 http://www.medworm.com/index.php?rid=5389717&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3141%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389717 Wed, 09 Nov 2011 05:00:00 +0100 5389717 http://www.medworm.com/index.php?rid=5389716&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3137%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389716 Wed, 09 Nov 2011 05:00:00 +0100 5389716 http://www.medworm.com/index.php?rid=5389715&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2F3135%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389715 Wed, 09 Nov 2011 05:00:00 +0100 5389715 http://www.medworm.com/index.php?rid=5389714&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2Fe196%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389714 Wed, 09 Nov 2011 05:00:00 +0100 5389714 http://www.medworm.com/index.php?rid=5389713&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2Fe195%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389713 Wed, 09 Nov 2011 05:00:00 +0100 5389713 http://www.medworm.com/index.php?rid=5389712&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2Fe194%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389712 Wed, 09 Nov 2011 05:00:00 +0100 5389712 http://www.medworm.com/index.php?rid=5389711&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2Fe193%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389711 Wed, 09 Nov 2011 05:00:00 +0100 5389711 http://www.medworm.com/index.php?rid=5389710&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2Fe192%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389710 Wed, 09 Nov 2011 05:00:00 +0100 5389710 http://www.medworm.com/index.php?rid=5389709&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2Fe191%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389709 Wed, 09 Nov 2011 05:00:00 +0100 5389709 http://www.medworm.com/index.php?rid=5389708&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2Fe190%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389708 Wed, 09 Nov 2011 05:00:00 +0100 5389708 http://www.medworm.com/index.php?rid=5389707&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F11%2Fe189%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5389707 Wed, 09 Nov 2011 05:00:00 +0100 5389707 http://www.medworm.com/index.php?rid=5287321&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F3127%3Frss%3D1 (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5287321 Wed, 05 Oct 2011 04:00:00 +0100 5287321 http://www.medworm.com/index.php?rid=5287320&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F3121%3Frss%3D1 This article argues that Hughlings Jackson was acquainted with the work of a wide range of philosophers. In particular, certain aspects of the writings of John Stuart Mill are reflected in Hughlings Jackson's own work. From early in his career, Hughlings Jackson adopted a critical stance in his neurological papers, seeking to expose shortcomings in the conventional practices of his peers and urging greater methodological rigour and sophistication in order to advance their science. This critical and ‘procedurist’ bias endows Hughlings Jackson's writings with a characteristically modern character. (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5287320 Wed, 05 Oct 2011 04:00:00 +0100 5287320 http://www.medworm.com/index.php?rid=5287319&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F3114%3Frss%3D1 John Hughlings Jackson was a pioneer in neurology who thought deeply about the structure of the brain and how that manifested itself in the various syndromes that he saw in the clinic. He enunciated a theory of the evolution and dissolution of neural function based on the idea that basic sensorimotor processes become embedded in networks of connections that relate them in successively more complex ways to allow for performance of more and more nuanced and adaptive functions. Hughlings Jackson noted the curious link between human thought, action and speech. He further recognized that disinhibition or release from control and direction marked neurological damage. His integrative framework remains deeply relevant to the plethora of results being produced by the careful and diverse experimenta... Brain journals http://www.medworm.com/rss/comments.php?id=5287319 Wed, 05 Oct 2011 04:00:00 +0100 5287319 http://www.medworm.com/index.php?rid=5287318&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F3106%3Frss%3D1 Hughlings Jackson’s neurological ideas are scientifically valid and practically useful. He began by emphasizing the focal lesion as the key to analysing patients’ symptoms. He proclaimed that ‘Epilepsy is the name for occasional, sudden, excessive, rapid, and local discharge of grey matter.’ He eliminated any need for a direct appeal to metaphysical agents by asserting that the nervous system is an exclusively sensorimotor machine constrained by the newly discovered conservation laws. In constructing his neurophysiology he accepted the phrenological assumption that the nervous system is composed of a number of physiologically discrete organs, each with a single function accessible to the diagnostician. By observing the march of epileptic seizures he developed the id... Brain journals http://www.medworm.com/rss/comments.php?id=5287318 Wed, 05 Oct 2011 04:00:00 +0100 5287318 http://www.medworm.com/index.php?rid=5287317&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F3094%3Frss%3D1 The role of the anterior temporal lobes in cognition and language has been much debated in the literature over the last few years. Most prevailing theories argue for an important role of the anterior temporal lobe as a semantic hub or a place for the representation of unique entities such as proper names of peoples and places. Lately, a few studies have investigated the role of the most anterior part of the left anterior temporal lobe, the left temporal pole in particular, and argued that the left anterior temporal pole is the area responsible for mapping meaning on to sound through evidence from tasks such as object naming. However, another recent study indicates that bilateral anterior temporal damage is required to cause a clinically significant semantic impairment. In the present study... Brain journals http://www.medworm.com/rss/comments.php?id=5287317 Wed, 05 Oct 2011 04:00:00 +0100 5287317 http://www.medworm.com/index.php?rid=5287316&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F3083%3Frss%3D1 The question of whether singing may be helpful for stroke patients with non-fluent aphasia has been debated for many years. However, the role of rhythm in speech recovery appears to have been neglected. In the current lesion study, we aimed to assess the relative importance of melody and rhythm for speech production in 17 non-fluent aphasics. Furthermore, we systematically alternated the lyrics to test for the influence of long-term memory and preserved motor automaticity in formulaic expressions. We controlled for vocal frequency variability, pitch accuracy, rhythmicity, syllable duration, phonetic complexity and other relevant factors, such as learning effects or the acoustic setting. Contrary to some opinion, our data suggest that singing may not be decisive for speech production in non... Brain journals http://www.medworm.com/rss/comments.php?id=5287316 Wed, 05 Oct 2011 04:00:00 +0100 5287316 http://www.medworm.com/index.php?rid=5287315&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F3071%3Frss%3D1 In this study, 17 patients with chronic post-stroke aphasia performed inner speech tasks (rhyme and homophone judgements), and overt speech tasks (reading aloud). The relationship between brain structure and language ability was studied using voxel-based lesion–symptom mapping. This showed that inner speech abilities were affected by lesions to the left pars opercularis in the inferior frontal gyrus and to the white matter adjacent to the left supramarginal gyrus, over and above overt speech production and working memory. These results suggest that inner speech cannot be assumed to be simply overt speech without a motor component. It also suggests that the use of overt speech to understand inner speech and vice versa might result in misleading conclusions, both in imaging studies and... Brain journals http://www.medworm.com/rss/comments.php?id=5287315 Wed, 05 Oct 2011 04:00:00 +0100 5287315 http://www.medworm.com/index.php?rid=5287314&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F3059%3Frss%3D1 During evolution, the human brain developed remarkable functional differences between left and right hemispheres. Due to this lateralization, disorders of spatial orienting occur predominantly after right brain damage and disorders of language after left brain damage. In contrast to this general pattern, few individuals show disturbed spatial orienting (spatial neglect) after left brain damage. Using a voxel-based lesion analysis approach, we found that neglect after acute left brain damage is represented in areas typically serving language functions, namely the superior and middle temporal gyri, inferior parietal lobule and insula. Since all except one of these patients also suffered from aphasia, we conclude that lateralization is not just reversed but that both functions (language and s... Brain journals http://www.medworm.com/rss/comments.php?id=5287314 Wed, 05 Oct 2011 04:00:00 +0100 5287314 http://www.medworm.com/index.php?rid=5287313&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F3044%3Frss%3D1 This study thus provides evidence that this subtype of specific language impairment is associated with atypical lateralization and functioning of core language areas. (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5287313 Wed, 05 Oct 2011 04:00:00 +0100 5287313 http://www.medworm.com/index.php?rid=5287312&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F3030%3Frss%3D1 Primary progressive aphasia comprises a heterogeneous group of neurodegenerative conditions with diverse clinical profiles and underlying pathological substrates. A major development has been the publication of the recent International Consensus Criteria for the three major variants namely: semantic, non-fluent/agrammatic and logopenic. The logopenic variant is assumed to represent an atypical presentation of Alzheimer pathology although evidence for this is, at present, limited. The semantic and non-fluent/agrammatic variants are largely associated with frontotemporal lobar degeneration with TDP-43 and tau pathology, respectively. The applicability of the International Consensus Criteria to an unselected clinical sample is unknown and no agreed clinical evaluation scale on which to derive... Brain journals http://www.medworm.com/rss/comments.php?id=5287312 Wed, 05 Oct 2011 04:00:00 +0100 5287312 http://www.medworm.com/index.php?rid=5287311&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F3011%3Frss%3D1 This study demonstrates that both careful dissection of the main language tracts and consideration of all diffusion tensor metrics are necessary to characterize the white matter changes that occur in the variants of primary progressive aphasia. These results highlight the potential value of diffusion tensor imaging as a new tool in the multimodal diagnostic evaluation of primary progressive aphasia. (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5287311 Wed, 05 Oct 2011 04:00:00 +0100 5287311 http://www.medworm.com/index.php?rid=5287310&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2982%3Frss%3D1 Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are not well known. We identified a series of 22 adult patients, including three adult post-mortem cases with Dravet syndrome. For all patients, we reviewed the clinical history, seizure types and frequency, antiepileptic drugs, cognitive, social and functional outcome and results of investigations. A systematic neuropathology study was performed, with post-mortem material from three adult cases with Dravet syndrome, in comparison with controls and a range of relevant paediatric tissue. Twenty-two adults with Dravet syndrome, 10 female, were included, median age 39 years (range 20–66). SCN1A structural variatio... Brain journals http://www.medworm.com/rss/comments.php?id=5287310 Wed, 05 Oct 2011 04:00:00 +0100 5287310 http://www.medworm.com/index.php?rid=5287309&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2969%3Frss%3D1 The long-term pathological effects of chronic epilepsy on normal brain ageing are unknown. Previous clinical and epidemiological studies show progressive cognitive decline in subsets of patients and an increased prevalence of Alzheimer's disease in epilepsy. In a post-mortem series of 138 patients with long-term, mainly drug-resistant epilepsy, we carried out Braak staging for Alzheimer's disease neurofibrillary pathology using tau protein immunohistochemistry. The stages were compared with clinicopathological factors, including seizure history and presence of old traumatic brain injury. Overall, 31% of cases were Braak Stage 0, 36% Stage I/II, 31% Stage III/IV and 2% Stage V/VI. The mean age at death was 56.5 years and correlated with Braak stage (P < 0.001). Analysis of Braak stages w... Brain journals http://www.medworm.com/rss/comments.php?id=5287309 Wed, 05 Oct 2011 04:00:00 +0100 5287309 http://www.medworm.com/index.php?rid=5287308&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2960%3Frss%3D1 Hypothalamic hamartomas present with isolated fits of ictal laughter (gelastic epilepsy) or a combination of gelastic and other types of seizures. Many of these patients also suffer from cognitive decline, neuropsychiatric comorbidities and precocious puberty. Although there is a large body of anecdotal evidence about hypothalamic hamartomas and gelastic seizures, many questions still remain to be answered. For instance, which specific hypothalamic regions are most affected by the location of hamartomas causing laughing versus other types of seizures? Does the neuroanatomical localization of the lesions differ in cases with only gelastic seizures or a combination of gelastic and other types of seizures? Does the location of the lesions correlate with the presence of precocious puberty, and... Brain journals http://www.medworm.com/rss/comments.php?id=5287308 Wed, 05 Oct 2011 04:00:00 +0100 5287308 http://www.medworm.com/index.php?rid=5287307&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2948%3Frss%3D1 We present a quantitative analysis of high-frequency oscillations and their rates of occurrence in a group of nine patients with neocortical epilepsy and two control patients with no history of seizures. Oscillations were automatically detected and classified using an unsupervised approach in a data set of unprecedented volume in epilepsy research, over 12 terabytes of continuous long-term micro- and macro-electrode intracranial recordings, without human preprocessing, enabling selection-bias-free estimates of oscillation rates. There are three main results: (i) a cluster of ripple frequency oscillations with median spectral centroid = 137 Hz is increased in the seizure-onset zone more frequently than a cluster of fast ripple frequency oscillations (median spectral centroid = 305 Hz); (ii)... Brain journals http://www.medworm.com/rss/comments.php?id=5287307 Wed, 05 Oct 2011 04:00:00 +0100 5287307 http://www.medworm.com/index.php?rid=5287306&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2929%3Frss%3D1 While the amygdala is considered to play a critical role in temporal lobe epilepsy, conclusions on underlying pathophysiological mechanisms have been derived largely from experimental animal studies. Therefore, the present study aimed to characterize synaptic network interactions, focusing on spontaneous interictal-like activity, and the expression profile of transmitter receptors in the human lateral amygdala in relation to temporal lobe epilepsy. Electrophysiological recordings, obtained intra-operatively in vivo in patients with medically intractable temporal lobe epilepsy, revealed the existence of interictal activity in amygdala and hippocampus. For in vitro analyses, slices were prepared from surgically resected specimens, and sections from individual specimens were used for electrop... Brain journals http://www.medworm.com/rss/comments.php?id=5287306 Wed, 05 Oct 2011 04:00:00 +0100 5287306 http://www.medworm.com/index.php?rid=5287305&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2912%3Frss%3D1 In this study, 26 patients with idiopathic generalized epilepsy characterized by tonic–clonic seizures and 26 age- and sex-matched healthy controls were recruited. Resting-state functional magnetic resonance imaging signal correlations and diffusion tensor image tractography were used to generate functional and structural connectivity networks. Graph theoretical analysis revealed that the patients lost optimal topological organization in both functional and structural connectivity networks. Moreover, the patients showed significant increases in nodal topological characteristics in several cortical and subcortical regions, including mesial frontal cortex, putamen, thalamus and amygdala relative to controls, supporting the hypothesis that regions playing important roles in the pathogen... Brain journals http://www.medworm.com/rss/comments.php?id=5287305 Wed, 05 Oct 2011 04:00:00 +0100 5287305 http://www.medworm.com/index.php?rid=5287304&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2898%3Frss%3D1 Stereo-electroencephalography is used to localize the seizure onset zone and connected neuronal networks in surgical candidates suffering from intractable focal epilepsy. The concept of an epileptogenicity index has been proposed recently to represent the likelihood of various regions being part of the seizure onset zone. It quantifies low-voltage fast activity, the electrophysiological signature of seizure onset usually assessed visually by neurologists. Here, we revisit epileptogenicity in light of neuroimaging tools such as those provided in statistical parametric mapping software. Our goal is to propose a robust approach, allowing easy exploration of patients’ brains in time and space. The procedure is based upon statistical parametric mapping, which is an established framework f... Brain journals http://www.medworm.com/rss/comments.php?id=5287304 Wed, 05 Oct 2011 04:00:00 +0100 5287304 http://www.medworm.com/index.php?rid=5287303&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2887%3Frss%3D1 This study presents a cohort of 152 operated patients where electric source imaging was applied as part of the pre-surgical work-up allowing a comparison with the results from other methods. Patients (n = 152) with >1 year postoperative follow-up were studied prospectively. The sensitivity and specificity of each imaging method was defined by comparing the localization of the source maximum with the resected zone and surgical outcome. Electric source imaging had a sensitivity of 84% and a specificity of 88% if the electroencephalogram was recorded with a large number of electrodes (128–256 channels) and the individual magnetic resonance image was used as head model. These values compared favourably with those of structural magnetic resonance imaging (76% sensitivity, 53% specifici... Brain journals http://www.medworm.com/rss/comments.php?id=5287303 Wed, 05 Oct 2011 04:00:00 +0100 5287303 http://www.medworm.com/index.php?rid=5287302&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2867%3Frss%3D1 In patients with medically refractory focal epilepsy who are candidates for epilepsy surgery, concordant non-invasive neuroimaging data are useful to guide invasive electroencephalographic recordings or surgical resection. Simultaneous electroencephalography and functional magnetic resonance imaging recordings can reveal regions of haemodynamic fluctuations related to epileptic activity and help localize its generators. However, many of these studies (40–70%) remain inconclusive, principally due to the absence of interictal epileptiform discharges during simultaneous recordings, or lack of haemodynamic changes correlated to interictal epileptiform discharges. We investigated whether the presence of epilepsy-specific voltage maps on scalp electroencephalography correlated with haemody... Brain journals http://www.medworm.com/rss/comments.php?id=5287302 Wed, 05 Oct 2011 04:00:00 +0100 5287302 http://www.medworm.com/index.php?rid=5287301&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2855%3Frss%3D1 Epilepsy surgery depends on reliable pre-surgical markers of epileptogenic tissue. The current gold standard is the seizure onset zone in ictal, i.e. chronic, electrocorticography recordings. Single pulse electrical stimulation can evoke epileptic, spike-like responses in areas of seizure onset also recorded by electrocorticography. Recently, spontaneous pathological high-frequency oscillations (80–520 Hz) have been observed in the electrocorticogram that are related to epileptic spikes, but seem more specific for epileptogenic cortex. We wanted to see whether a quantitative electroencephalography analysis using time–frequency information including the higher frequency range could be applied to evoked responses by single pulse electrical stimulation, to enhance its specificity ... Brain journals http://www.medworm.com/rss/comments.php?id=5287301 Wed, 05 Oct 2011 04:00:00 +0100 5287301 http://www.medworm.com/index.php?rid=5287300&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2844%3Frss%3D1 In conclusion, the additional application of morphometric MRI analysis increases the diagnostic sensitivity for FCD II in comparison with conventional visual analysis alone. Since detection of FCDs on MRI during the presurgical evaluation markedly improves the chance of becoming seizure free postoperatively, we apply morphometric analysis in all patients who are MRI-negative after conventional visual analysis at our centre. (Source: Brain) Brain journals http://www.medworm.com/rss/comments.php?id=5287300 Wed, 05 Oct 2011 04:00:00 +0100 5287300 http://www.medworm.com/index.php?rid=5287299&cid=s_32201_25_f&fid=32201&url=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fcontent%2Fshort%2F134%2F10%2F2828%3Frss%3D1 We have generated an experimental ‘double-hit’ model of chronic epilepsy to recapitulate the co-existence of abnormal cortical structure and frequently recurrent seizures as observed in human focal cortical dysplasia. We induced cortical malformations by exposing rats prenatally to methylazoxymethanol acetate and triggered status epilepticus and recurrent seizures in adult methylazoxymethanol acetate rats with pilocarpine. We studied the course of epilepsy and the long-term morphologic and molecular changes induced by the occurrence of status epilepticus and subsequent chronic epilepsy in the malformed methylazoxymethanol acetate exposed brain. Behavioural and electroencephalographic analyses showed that methylazoxymethanol acetate pilocarpine rats develop more severe epilepsy ... Brain journals http://www.medworm.com/rss/comments.php?id=5287299 Wed, 05 Oct 2011 04:00:00 +0100 5287299