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The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice
Abstract There is still no treatment for polyglutamine disorders, but clearance of mutant proteins might represent a potential therapeutic strategy. Autophagy, the major pathway for organelle and protein turnover, has been implicated in these diseases. To determine whether the autophagy/lysosome system contributes to the pathogenesis of spinocerebellar ataxia type 7 (SCA7), caused by expansion of a polyglutamine tract in the ataxin-7 protein, we looked for biochemical, histological and transcriptomic abnormalities in components of the autophagy/lysosome pathway in a knock-in mouse model of the disease, postmortem...
Source: Acta Neuropathologica - October 21, 2014 Category: Neurology Source Type: research

Inadvertent High-dose Therapy With Temozolomide in a Child With Recurrent Pontine Glioma Followed by a Rapid Clinical Response But Deteriorated After Substitution With Low-dose Therapy
We present a case of inadvertent high-dose therapy with temozolomide in a child with recurrent diffuse intrinsic pontine glioma followed by a rapid clinical response. The patient was a 7-year-old boy who initially presented with a history of left facial palsy, double vision, headache, and ataxia. His symptoms were completely resolved following radiotherapy but recurred 3 months after. Following recurrence, he received temozolomide in a dose >3 times higher than prescribed inadvertently but tolerated well with a rapid clinical response. He eventually deteriorated after he was substituted with a lower dose of temozolomide an...
Source: Journal of Pediatric Hematology Oncology - October 21, 2014 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Open‐label pilot study of interferon gamma‐1b in Friedreich ataxia
ConclusionsInterferon gamma‐1b improved FARS scores without a clear relationship to changes in frataxin levels. Larger, longer placebo‐controlled trials including biochemical assessments in affected tissues are necessary to evaluate fully the efficacy and utility of IFN‐γ in FRDA. (Source: Acta Neurologica Scandinavica)
Source: Acta Neurologica Scandinavica - October 21, 2014 Category: Neurology Authors: L. Seyer, N. Greeley, D. Foerster, C. Strawser, S. Gelbard, Y. Dong, K. Schadt, M. G. Cotticelli, A. Brocht, J. Farmer, R. B. Wilson, D. R. Lynch Tags: Original Article Source Type: research

Sensory ataxia associated with Graves' disease
A 76-year-old female with no family history of neuromuscular disease presented in March 2010 with an eight month history of progressive walking difficulty leading to the need of using a walker as well as of progressive numbness and pain in her feet and hands. She had no history of other diseases, except ongoing treatment for Graves' disease (see below). Neurological examination at time of presentation revealed intact strength, reduced deep tendon reflexes, reduced proprioception and pin-prick sensation in the legs and a complete loss of vibration sensation below the elbows and knees. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - October 21, 2014 Category: Neurology Authors: Kristin Samuelsson, Mats Palmer, Rayomand Press Tags: Letter to the editor Source Type: research

The volume effect of lidocaine on thoracic epidural anesthesia in conscious Beagle dogs
Conclusions and clinical relevanceThe increase in volume of local anesthetic solution improved SB by resulting in more consistent bilateral dermatome blockade as well as an extended blockade. However, caution should be exerted, as higher volume injections of lidocaine caused side effects in all dogs. (Source: Veterinary Anaesthesia and Analgesia)
Source: Veterinary Anaesthesia and Analgesia - October 20, 2014 Category: Veterinary Research Authors: Won‐gyun Son, Min Jang, Sang‐min Jo, Junghee Yoon, Inhyung Lee Tags: Research Paper Source Type: research

Spinocerebellar ataxia 35: Novel mutations in TGM6 with clinical and genetic characterization
Conclusions: SCA35 is an uncommon ataxia syndrome, accounting for 0.6% (3/512) of SCAs among the Han-Chinese descent in Taiwan. This study broadens the mutational spectrum of SCA35 and stresses the importance of TG6 in cerebellar functions. (Source: Neurology)
Source: Neurology - October 20, 2014 Category: Neurology Authors: Guo, Y.-C., Lin, J.-J., Liao, Y.-C., Tsai, P.-C., Lee, Y.-C., Soong, B.-W. Tags: Spinocerebellar ataxia ARTICLE Source Type: research

Abnormal microglial activation in the Cstb−/− mouse, a model for progressive myoclonus epilepsy, EPM1
Progressive myoclonus epilepsy of Unverricht–Lundborg type (EPM1) is an autosomal‐recessively inherited neurodegenerative disorder characterized by severely incapacitating myoclonus, seizures, and ataxia, and caused by loss‐of‐function mutations in the cystatin B gene (CSTB). A central neuropathological finding in the Cstb−/− mouse, an animal model for EPM1, is early microglial activation, which precedes astroglial activation, neuronal loss, and onset of myoclonus, thus implying a critical role for microglia in EPM1 pathogenesis. Here, we characterized phenotypic and functional properties of microglia from Cstb...
Source: Glia - October 18, 2014 Category: Neurology Authors: Olesya Okuneva, Inken Körber, Zhilin Li, Li Tian, Tarja Joensuu, Outi Kopra, Anna‐Elina Lehesjoki Tags: Research Article Source Type: research

Checkpoint kinase Chk2 controls renal Cyp27b1 expression, calcitriol formation, and calcium-phosphate metabolism.
Abstract Checkpoint kinase 2 (Chk2) is the main effector kinase of ataxia telangiectasia mutated (ATM) and responsible for cell cycle regulation. ATM signaling has been shown to upregulate interferon-regulating factor-1 (IRF-1), a transcription factor also expressed in the kidney. Calcitriol (1,25 (OH)2D3), a major regulator of mineral metabolism, is generated by 25-hydroxyvitamin D 1α-hydroxylase in the kidney. Since 25-hydroxyvitamin D 1α-hydroxylase expression is enhanced by IRF-1, the present study explored the role of Chk2 for calcitriol formation and mineral metabolism. Chk2-deficient mice (chk2 (-/-)) were...
Source: Pflugers Archiv : European Journal of Physiology - October 17, 2014 Category: Physiology Authors: Fahkri H, Zhang B, Fajol A, Hernando N, Elvira B, Mannheim JG, Pichler BJ, Daniel C, Amann K, Hirao A, Haight J, Mak TW, Lang F, Föller M Tags: Pflugers Arch Source Type: research

Acute hemicerebellitis in a young adult: a case report and literature review
Acute hemicerebellitis, marked by headache with or without cerebellar signs, is a rare clinical entity involving a unilateral cerebellar hemisphere. The pathogenesis of acute hemicerebellitis remains unclear, and the disease rarely occurs in adults. Here, we report an 18-year-old woman who presented with a lack of coordination of the right hand and leg lasting longer than one week, following a pulsatile headache. A neurological examination disclosed ocular dysmetria, right-sided limb ataxia and slight truncal ataxia. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - October 16, 2014 Category: Neurology Authors: Keisuke Suzuki, Toshiki Nakamura, Ayaka Numao, Hiroaki Fujita, Tomoko Komagamine, Takahide Nagashima, Yohei Asakawa, Yuji Watanabe, Hidehiro Takekawa, Koichi Hirata Tags: Short communication Source Type: research

Human Induced Pluripotent Stem Cell Models of Inherited Cardiovascular Diseases.
This article summarizes the growing body of research related to modeling various cardiac diseases using hiPSCs. Moreover, by reviewing the methods used in previous studies, we propose multiple novel applications of hiPSCs to investigate comprehensive cardiovascular disorders and facilitate drug discovery. PMID: 25322695 [PubMed - as supplied by publisher] (Source: Current Stem Cell Research and Therapy)
Source: Current Stem Cell Research and Therapy - October 16, 2014 Category: Stem Cells Authors: Jiang W, Lan F, Zhang H Tags: Curr Stem Cell Res Ther Source Type: research

A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7
In this study, 50 patients, categorized into adult or early phenotype, were clinically assessed using standard neurological exams and genotyped using fluorescent PCR and capillary electrophoresis. Patients with SCA7 exhibited the classical phenotype of the disease characterized by cerebellar ataxia and visual loss; however, we reported, for the first time, frontal-executive disorders and altered sensory-motor peripheral neuropathy in these patients. Semiquantitative analysis of ataxia-associated symptoms was performed using Scale for the Assessment and Rating of Ataxia (SARA) and the Brief Ataxia Rating Scale (BARS) scores...
Source: Neurogenetics - October 15, 2014 Category: Genetics & Stem Cells Source Type: research

Autonomic predominant multiple system atrophy in the context of parkinsonian and cerebellar variants
Multiple system atrophy (MSA) is a sporadic progressive neurodegenerative disorder characterized by autonomic failure, with combinations of Parkinsonism that is poorly responsive to levodopa, cerebellar ataxia and corticospinal dysfunction [1–4]. Autonomic features are known to MSA [5–10]. However, they might be very early symptoms of MSA at a stage where cerebellar or Parkinsonian features are not yet present [11]. The aim of this study was to study autonomic dysfunction in patients of MSA and to study the time of appearance of these symptoms and the severity of autonomic dysfunction at first examination that may have...
Source: Clinical Neurology and Neurosurgery - October 15, 2014 Category: Neurosurgery Authors: Ruchika Tandon, Sunil Pradhan Source Type: research

Saccharomyces cerevisiae Sen1 as a Model for the Study of Mutations in Human Senataxin That Elicit Cerebellar Ataxia [Gene Expression]
The nuclear RNA and DNA helicase Sen1 is essential in the yeast Saccharomyces cerevisiae and is required for efficient termination of RNA polymerase II transcription of many short noncoding RNA genes. However, the mechanism of Sen1 function is not understood. We created a plasmid-based genetic system to study yeast Sen1 in vivo. Using this system, we show that (1) the minimal essential region of Sen1 corresponds to the helicase domain and one of two flanking nuclear localization sequences; (2) a previously isolated terminator readthrough mutation in the Sen1 helicase domain, E1597K, is rescued by a second mutation designed...
Source: Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Chen, X., Muller, U., Sundling, K. E., Brow, D. A. Tags: Gene Expression Source Type: research

Sudden death due to a cystic lesion in the cerebellum
Hemangioblastomas are rare, benign tumors of the central nervous system (CNS), and they most commonly occur in the cerebellum of adults [1–3]. Macroscopically, they are usually cystic, and their mass effect induces increased intracranial pressure (ICP), which leads to the clinical symptoms of hemangioblastomas: headache, nausea, vomiting, ataxia, and dizziness [1]. We herein report an autopsy case of cerebellar hemangioblastoma in a middle-aged female patient who had suffered from the above-mentioned symptoms for about 2 months before she died shortly after entering a mental hospital. (Source: Forensic Science International)
Source: Forensic Science International - October 14, 2014 Category: Forensic Medicine Authors: Yui Igari, Tadashi Hosoya, Yoshie Hayashizaki, Akihito Usui, Yusuke Kawasumi, Kiyotaka Usui, Masato Funayama Tags: Case Report Source Type: research

The development of ataxia telangiectasia mutated kinase inhibitors.
Abstract Radiation and genotoxic drugs are two of the cornerstones of current cancer treatment strategy. However, this type of therapy often suffers from radio- or chemo-resistance caused by DNA repair mechanisms. With the aim of increasing the efficacy of these treatments, there has been great interest in studying DNA damage responses (DDR). Among the plethora of signal and effector proteins involved in DDR, three related kinases ATM (ataxia telangiectasia mutated), ATR (ATM and Rad3-related) and DNA-PK (DNA-dependent protein kinase) play the main roles in initiation and regulation of signaling pathways in respons...
Source: Mini Reviews in Medicinal Chemistry - October 13, 2014 Category: Chemistry Authors: Andrs M, Korabecny J, Nepovimova E, Jun D, Hodny Z, Moravcova S, Hanzlikova H, Kuca K Tags: Mini Rev Med Chem Source Type: research

The effect of prior alcohol consumption on the ataxic response to alcohol in high-alcohol preferring mice
We have previously shown that ethanol-naïve High-Alcohol Preferring (HAP) mice, genetically predisposed to consume large quantities of alcohol, exhibited heightened sensitivity and more rapid acute functional tolerance (AFT) to alcohol-induced ataxia compared to Low-Alcohol Preferring mice. The goal of the present study was to evaluate the effect of prior alcohol self-administration on these responses in HAP mice. Naïve male and female adult HAP mice from the second replicate of selection (HAP2) underwent 18 days of 24-h, 2-bottle choice drinking for 10% ethanol vs. (Source: Alcohol)
Source: Alcohol - October 13, 2014 Category: Addiction Authors: Brandon M. Fritz, Stephen L. Boehm Source Type: research

Comparison of midazolam and diazepam as co‐induction agents with ketamine for anaesthesia in sedated ponies undergoing field castration
Conclusions and clinical relevanceMidazolam and diazepam at 0.06 mg kg−1 can be used interchangeably in combination with ketamine for IV induction of short term anaesthesia in ponies. (Source: Veterinary Anaesthesia and Analgesia)
Source: Veterinary Anaesthesia and Analgesia - October 12, 2014 Category: Veterinary Research Authors: Annemarie Vries, Sarah Thomson, Polly M Taylor Tags: Research Paper Source Type: research

Role of Dynamic and Mitochondrial Mutations in Neurodegenerative Diseases with Ataxia: Lower Repeats and LNAs at Multiple Loci as Alternative Pathogenesis
In this study, we assessed the repeats at eight spinocerebellar ataxia (SCA) loci in 188 clinical SCA patients and 100 individuals without any neurological signs. Results from the present study were able to identify 16/188 (8.5 %) clinical ataxia patients with repeat expansions in the pathological range of SCA genes, with the majority having expansion at the SCA1, 2, and 3 loci. The present study further evaluated two mitochondrial mutations associated with ataxia, i.e., T8993G and A8344G. Six patients were identified with A8344G mutation and none had the mutation in ATPase 6 gene; however, G8994A variation was found in t...
Source: Journal of Molecular Neuroscience - October 12, 2014 Category: Neuroscience Source Type: research

[Diffuse superficial siderosis of the central nervous system: four case reports and review of the literature].
CONCLUSIONS. Transient focal neurological episodes were the most common symptom in our cases of diffuse superficial siderosis of the CNS. The natural history of this condition is not very known and may be regarded as a radiological finding. PMID: 25297478 [PubMed - in process] (Source: Revista de Neurologia)
Source: Revista de Neurologia - October 11, 2014 Category: Neurology Authors: Calvo M, de Miguel C, Pinel A, Ortega JM, Aladro Y Tags: Rev Neurol Source Type: research

Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice.
Abstract miR-29 is expressed strongly in the brain and alterations in expression have been linked to several neurological disorders. To further explore the function of this miRNA in the brain, we generated miR-29a/b-1 knockout animals. Knockout mice develop a progressive disorder characterized by locomotor impairment and ataxia. The different members of the miR-29 family are strongly expressed in neurons of the olfactory bulb, the hippocampus and in the Purkinje cells of the cerebellum. Morphological analysis showed that Purkinje cells are smaller and display less dendritic arborisation compared to their wildtype l...
Source: Neurobiology of Disease - October 11, 2014 Category: Neurology Authors: Papadopoulou AS, Serneels L, Achsel T, Mandemakers W, Callaerts-Vegh Z, Dooley J, Lau P, Ayoubi T, Radaelli E, Spinazzi M, Neumann M, Hébert SS, Silahtaroglu A, Liston A, D Hooge R, Glatzel M, De Strooper B Tags: Neurobiol Dis Source Type: research

Adult-onset genetic leukoencephalopathies. Focus on the more recently defined forms.
Abstract Inherited white matter (WM) disorders include a heterogenous group of disorders affecting brain white matter and associated with myelin, axonal and glial cells or vascular pathology. Often a wide range of overlapping neurological manifestations possibly associated with variable systemic involvement are found in these disorders making clinical diagnosis challenging. Advances in molecular genetics enabled the identification of the responsible genes of an increasing number of previously undefined forms. This review focuses on genetic leukoencephalopathies with exclusive adulthood presentation, most of which h...
Source: Current Molecular Medicine - October 10, 2014 Category: Molecular Biology Authors: Di Donato I, Banchi S, Federico A, Dotti MT Tags: Curr Mol Med Source Type: research

The expanding spectrum of neurologic phenotypes in children with ATP1A3 mutations: AHC to RDP to CAPOS and beyond
ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurologic phenotypes, including Rapid-onset Dystonia Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss). (Source: Pediatric Neurology)
Source: Pediatric Neurology - October 10, 2014 Category: Neurology Authors: Matthew T. Sweney, Tara Newcomb, Kathryn J. Swoboda Tags: Topical Review Source Type: research

Cerebellar Ataxia Diagnosis Aided by Exome SequencingCerebellar Ataxia Diagnosis Aided by Exome Sequencing
Clinical exome sequencing is proving to be highly useful in the genetic diagnosis of adult and sporadic-onset cerebellar ataxia and should be considered routine in the evaluation of such patients. Medscape Medical News (Source: Medscape Neurology and Neurosurgery Headlines)
Source: Medscape Neurology and Neurosurgery Headlines - October 9, 2014 Category: Neurology Tags: Neurology & Neurosurgery News Source Type: news

Tembusu-like flavivirus (Perak virus) as the cause of neurological disease outbreaks in young Pekin duck.
Abstract A neurological disease of young Pekin ducks characterized by ataxia, lameness and paralysis was observed at several duck farms in Malaysia in 2012. Gross pathological lesions were absent or inconsistent in most of the cases, but microscopically severe and consistent lesions were found in the brain and spinal cord, characterized by non-purulent panencephalomyelitis. Several virus isolates were obtained in embryonated duck eggs and in cell cultures (Vero and DF-1) inoculated with the brain homogenates of affected ducks. After exclusion of other viruses, the isolates were identified as a flavivirus by flavivi...
Source: Avian Pathology - October 9, 2014 Category: Pathology Authors: Homonnay ZG, Kovács EW, Bányai K, Albert M, Fehér E, Mató T, Tatár-Kis T, Palya V Tags: Avian Pathol Source Type: research

Serial MR spectroscopy in hypertensive encephalopathy
A 38-year-old woman was admitted to the hospital because of gait disturbance. She had developed a headache, left hemiparesis, ataxia and incontinence ten days previously. She had a history of hypertension since the age of 15, but did not take depressor medication. Her mother also had hypertension. On arrival, she was 164cm tall and weighted 48kg. Her blood pressure was 250/160mmHg. She was unconscious with Glasgow Coma Scale (GCS) 15 (E4V5M6). Her cranial nerves were intact. Her right arm and both legs were paretic. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - October 9, 2014 Category: Neurology Authors: Yuko Matsubara, Yasuhiro Manabe, Mizuho Hattori, Yumiko Nakano, Yoshiaki Takahashi, Hisashi Narai, Kosuke Ota, Koji Abe Tags: Letter to the Editor Source Type: research

Clinical aspects of envenomation caused by Tityus obscurus (Gervais, 1843) in two distinct regions of Pará state, Brazilian Amazon basin: a prospective case series
Conclusion : The present study shows that two regions of Para state differ in the clinical manifestations and severity of confirmed envenomation by T. obscurus which suggests a toxicity variation resulting from the diversity of T. obscurus venom in different areas of the Brazilian Amazon basin, and that T. serrulatus antivenom can be successfully used against T. obscurus. (Source: Journal of Venomous Animals and Toxins including Tropical Diseases)
Source: Journal of Venomous Animals and Toxins including Tropical Diseases - October 8, 2014 Category: Tropical Medicine Source Type: research

Targeting the Small- and Intermediate-Conductance Ca-Activated Potassium Channels: The Drug-Binding Pocket at the Channel/Calmodulin Interface.
Abstract The small- and intermediate-conductance Ca(2+)-activated potassium (SK/IK) channels play important roles in the regulation of excitable cells in both the central nervous and cardiovascular systems. Evidence from animal models has implicated SK/IK channels in neurological conditions such as ataxia and alcohol use disorders. Further, genome-wide association studies have suggested that cardiovascular abnormalities such as arrhythmias and hypertension are associated with single nucleotide polymorphisms that occur within the genes encoding the SK/IK channels. The Ca(2+) sensitivity of the SK/IK channels stems f...
Source: Neuro-Signals - October 8, 2014 Category: Neurology Authors: Cui M, Qin G, Yu K, Bowers MS, Zhang M Tags: Neurosignals Source Type: research

Should spinocerebellar ataxias be included in the differential diagnosis for Huntington’s diseases-like syndromes?
In this article, we describe three patients with different spinocerebellar ataxia (SCA) subtypes presenting with unusual movement disorders predominantly characterized by choreoathetosis, what, together with their autosomal dominant pattern of inheritance, resembled the Huntington-Like syndromes. From a large SCA cohort, we have observed chorea in 1/35 SCA2, 1/112 SCA3/MJD and 1/30 SCA7 patients. Twenty-eight patients with SCA1, 11 patients with SCA6, and 3 patients with SCA10 were also evaluated, and none of them presented chorea. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - October 8, 2014 Category: Neurology Authors: José Luiz Pedroso, Maria Eliza Thomaz de Freitas, Marcus Vinicius Cristino Albuquerque, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando G.P. Barsottini Source Type: research

Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?
In this article, we describe three patients with different spinocerebellar ataxia (SCA) subtypes presenting with unusual movement disorders predominantly characterized by choreoathetosis, which, together with their autosomal dominant pattern of inheritance, resembled the Huntington-like syndromes. From a large SCA cohort, we have observed chorea in 1/35 SCA2, 1/112 SCA3/MJD, and 1/30 SCA7 patients. Twenty-eight patients with SCA1, 11 patients with SCA6, and 3 patients with SCA10 were also evaluated, and none of them presented chorea. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - October 8, 2014 Category: Neurology Authors: José Luiz Pedroso, Maria Eliza Thomaz de Freitas, Marcus Vinicius Cristino Albuquerque, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando G.P. Barsottini Source Type: research

Delayed facial weakness in Guillain‐Barré and Miller Fisher syndromes
Conclusions: As facial weakness can lead to further morbidity, it would be prudent for clinicians to warn patients of this possibility, although additional immunotherapy is usually not required. © 2014 Wiley Periodicals, Inc. (Source: Muscle and Nerve)
Source: Muscle and Nerve - October 7, 2014 Category: Internal Medicine Authors: Muneto Tatsumoto, Sonoko Misawa, Norito Kokubun, Yukari Sekiguchi, Koichi Hirata, Satoshi Kuwabara, Nobuhiro Yuki Tags: Research Article Source Type: research

Supranuclear eye movement disorders
Purpose of reviewThis work reviews supranuclear ocular motor disorders, highlighting new data published during the past year. Recent findingsPerceptional adaptative mechanisms may explain recent research concerning the discrepancy between objective measurement of saccade abnormalities and their putative functional visual impairment. Eye movement classes seem to be selectively disrupted by different neurodegenerative disorders. Deep brain stimulation in Parkinson's disease patients may improve pursuit deficits, highlighting the role of basal ganglia in the control of smooth pursuit. Subcortical optokinetic pathways seem to ...
Source: Current Opinion in Ophthalmology - October 6, 2014 Category: Opthalmology Tags: NEURO-OPHTHALMOLOGY: Edited by Robert C. Sergott Source Type: research

Long-term follow-up in patients with CCFDN syndrome
Conclusions: CCFDN should be classified as a recessive demyelinating sensory-motor neuropathy, and axonal loss is a major determinant of long-term outcomes and disability. Patients benefit from early and ongoing physiotherapy, and should be thoroughly counseled regarding virus-triggered rhabdomyolysis and the risk of malignant hyperthermia. Whether supplementation with liposoluble vitamins results in a therapeutic benefit should be evaluated in further studies. (Source: Neurology)
Source: Neurology - October 6, 2014 Category: Neurology Authors: Walter, M. C., Bernert, G., Zimmermann, U., Mullner-Eidenbock, A., Moser, E., Kalaydjieva, L., Lochmuller, H., Muller-Felber, W. Tags: Natural history studies (prognosis) ARTICLE Source Type: research

A new humanized ataxin-3 knock-in mouse model combines the genetic features, pathogenesis of neurons and glia and late disease onset of SCA3/MJD.
Abstract Spinocerebellar ataxia type 3 (SCA3/MJD) is a neurodegenerative disease triggered by the expansion of CAG repeats in the ATXN3 gene. Here, we report the generation of the first humanized ataxin-3 knock-in mouse model (Ki91), which provides insights into the neuronal and glial pathology of SCA3/MJD. First, mutant ataxin-3 accumulated in cell nuclei across the Ki91 brain, showing diffused immunostaining and forming intranuclear inclusions. The humanized allele revealed expansion and contraction of CAG repeats in intergenerational transmissions. CAG mutation also exhibited age-dependent tissue-specific expans...
Source: Neurobiology of Disease - October 6, 2014 Category: Neurology Authors: Switonski PM, Szlachcic WJ, Krzyzosiak WJ, Figiel M Tags: Neurobiol Dis Source Type: research

5‑FU resistance abrogates the amplified cytotoxic effects induced by inhibiting checkpoint kinase 1 in p53‑mutated colon cancer cells.
In this study, we found that 5‑FU induced S‑phase arrest only in p53‑deficient colorectal cancer cells. 5‑FU treatment induced DNA damage and activation of ataxia telangiectasia mutated (ATM) and Chk1, leading to S‑phase arrest, and Chk1 inhibition using SB218078 reduced S‑phase arrest and increased apoptosis in the presence of 5‑FU. In contrast, in p53‑deficient, 5‑FU‑resistant (5FUR) colon cancer cells that we developed, 5‑FU enhanced DNA damage but did not induce Chk1/ATM activation or cell cycle arrest. SB218078 in combination with 5‑FU did not induce apoptosis. These results indicate that 5...
Source: International Journal of Oncology - October 6, 2014 Category: Cancer & Oncology Authors: Akasaka T, Tsujii M, Kondo J, Hayashi Y, Ying J, Lu Y, Kato M, Yamada T, Yamamoto S, Inoue T, Tsujii Y, Maekawa A, Fujinaga T, Shiraishi E, Hiyama S, Inoue T, Shinzaki S, Watabe K, Nishida T, Iijima H, Takehara T Tags: Int J Oncol Source Type: research

Mesenchymal Stem Cells as a Potential Therapeutic Tool for Spinocerebellar Ataxia
Abstract Spinocerebellar ataxia (SCA) is a devastating progressive neurodegenerative disorder, for which no effective treatments have been developed. However, some studies have shown that an intracerebellar or intrathecal injection of mesenchymal stem cells (MSCs) was partially effective in some genetic mouse models of cerebellar ataxia such as SCA1 and Lurcher mutant. MSCs likely exert their therapeutic efficacy by secreting innate factors to induce neuronal growth and synaptic connection and reduce apoptosis. In this review, we introduce the therapeutic influence of MSCs on each mouse model for cerebellar ataxia...
Source: The Cerebellum - October 4, 2014 Category: Neurology Source Type: research

Mesenchymal Stem Cells as a Potential Therapeutic Tool for Spinocerebellar Ataxia.
Abstract Spinocerebellar ataxia (SCA) is a devastating progressive neurodegenerative disorder, for which no effective treatments have been developed. However, some studies have shown that an intracerebellar or intrathecal injection of mesenchymal stem cells (MSCs) was partially effective in some genetic mouse models of cerebellar ataxia such as SCA1 and Lurcher mutant. MSCs likely exert their therapeutic efficacy by secreting innate factors to induce neuronal growth and synaptic connection and reduce apoptosis. In this review, we introduce the therapeutic influence of MSCs on each mouse model for cerebellar ataxia ...
Source: Cerebellum - October 4, 2014 Category: Neuroscience Authors: Nakamura K, Mieda T, Suto N, Matsuura S, Hirai H Tags: Cerebellum Source Type: research

Cerebellum-specific 18F-FDG PET analysis for the detection of subregional glucose metabolism changes in spinocerebellar ataxia
The cerebellum (CB) consists of complex anatomical and functional subregions. To better investigate the complicated functional anatomy, a detailed subregional analysis and/or a precise spatial normalization of the fluorine-18 fluorodeoxyglucose (18F-FDG) PET imaging data are essential. Here, the 28 MRIcron CB volumes of interests (VOIs) template merged into eight cerebellar subregional VOIs (bilateral anterior, superior, and inferior posterior lobes of the CB cortex, and the superior and inferior vermis) on mean 18F-FDG PET templates. We also developed a new spatial normalization method using a study-specific and CB-specif...
Source: NeuroReport - October 3, 2014 Category: Neurology Tags: Degeneration and Repair Source Type: research

Cognitive Delay as a Risk Factor for Late Presentation of Vestibular Schwannoma
ConclusionPreexisting cognitive impairment is a risk factor for late presentation of VS. Patients with normal cognitive function most commonly seek medical care after unilateral hearing loss and tinnitus. In contrast, individuals with poor cognitive capacity may be unable to acknowledge such symptoms or communicate their presence. In such patients, the diagnosis of VS is elusive, and clinicians should maintain a low threshold for imaging to avoid further delays in diagnosis and treatment. (Source: Otology and Neurotology)
Source: Otology and Neurotology - October 1, 2014 Category: ENT & OMF Tags: Tumors of the Ear & Cranial Base Source Type: research

Gamma Knife Radiosurgery for Cerebellopontine Angle Meningiomas: A Multicenter Study
CONCLUSION: GKRS is an effective therapy for CPA meningiomas. Depending on the patient and tumor characteristics, radiosurgery can be an adjuvant treatment to initial surgical resection or a standalone procedure that obviates the need for resection in most patients. ABBREVIATIONS: ARE, adverse radiation effect CN, cranial nerve CPA, cerebellopontine angle EBRT, external beam radiation therapy GKRS, Gamma Knife radiosurgery IAC, internal auditory canal NAGKC, North American Gamma knife Consortium PFS, progression-free survival SRS, stereotactic radiosurgery WHO, World Health Organization (Source: Neurosurgery)
Source: Neurosurgery - October 1, 2014 Category: Neurosurgery Tags: Research-Human-Clinical Studies: Editor's Choice Source Type: research

Development and Validation of a Rating Scale for Recessive Spastic Ataxia
To develop a rating scale for Recessive Spastic Ataxia of Charlevoix-Saguenay. (Source: Archives of Physical Medicine and Rehabilitation)
Source: Archives of Physical Medicine and Rehabilitation - October 1, 2014 Category: Rehabilitation Authors: Cynthia Gagnon, Jean Mathieu, Isabelle Lessard, Caroline Lavoie Source Type: research

[A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopenia.]
CONCLUSION: This is the first prospective pilot study in Spain using TRECS/KRECS/ACTB-assay, describing the experience and applicability of this method to identify severe lymphopenias. The ideal cut-off remains to be established in our population. Quality of sampling, storage and preparation need to be further improved. PMID: 25278007 [PubMed - as supplied by publisher] (Source: Anales de Pediatria)
Source: Anales de Pediatria - September 29, 2014 Category: Pediatrics Authors: Olbrich P, de Felipe B, Delgado-Pecellin C, Rodero R, Rojas P, Aguayo J, Marquez J, Casanovas J, Sánchez B, Lucena JM, Ybot-Gonzalez P, Borte S, Neth O Tags: An Pediatr (Barc) Source Type: research

Decreased Expression of Glutamate Transporter GLAST in Bergmann Glia Is Associated with the Loss of Purkinje Neurons in the Spinocerebellar Ataxia Type 1.
Abstract Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease of the cerebellum caused by a polyglutamine-repeat expansion in the protein ATXN1. We have previously demonstrated that astrocytic activation occurs early in pathogenesis, correlates with disease progression, and can occur when mutant ATXN1 expression is limited to Purkinje neurons. We now show that expression of glutamate and aspartate transporter, GLAST, is decreased in cerebellar astrocytes in a mouse model of SCA1. This decrease occurs in non-cell autonomous manner late in disease and correlates well with the loss ...
Source: Cerebellum - September 27, 2014 Category: Neuroscience Authors: Cvetanovic M Tags: Cerebellum Source Type: research

The Virtual Peg Insertion Test as an assessment of upper limb coordination in ARSACS patients: A pilot study
This paper introduces a novel assessment tool to provide clinicians with quantitative and more objective measures of upper limb coordination in patients suffering from Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). The Virtual Peg Insertion Test (VPIT) involves manipulating an instrumented handle in order to move nine pegs into nine holes displayed in a virtual environment. The main outcome measures were the number of zero-crossings of the hand acceleration vector, as a measure of movement coordination, and the total time required to complete the insertion of the nine pegs, as a measure of overall uppe...
Source: Journal of the Neurological Sciences - September 27, 2014 Category: Neurology Authors: Cynthia Gagnon, Caroline Lavoie, Isabelle Lessard, Jean Mathieu, Bernard Brais, Jean-Pierre Bouchard, Marie-Christine Fluet, Roger Gassert, Olivier Lambercy Tags: Short communication Source Type: research

Decreased Expression of Glutamate Transporter GLAST in Bergmann Glia Is Associated with the Loss of Purkinje Neurons in the Spinocerebellar Ataxia Type 1
Abstract Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease of the cerebellum caused by a polyglutamine-repeat expansion in the protein ATXN1. We have previously demonstrated that astrocytic activation occurs early in pathogenesis, correlates with disease progression, and can occur when mutant ATXN1 expression is limited to Purkinje neurons. We now show that expression of glutamate and aspartate transporter, GLAST, is decreased in cerebellar astrocytes in a mouse model of SCA1. This decrease occurs in non-cell autonomous manner late in disease and correlates well with the loss...
Source: The Cerebellum - September 26, 2014 Category: Neurology Source Type: research

Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family
Conclusions: The association of SMA with myoclonic epilepsy may constitute a separate and genetically independent syndrome with unique clinical and electrophysiological findings. Collection of similar cases with genetic studies is needed to define the phenotype clearly and to identify new genes and molecular pathogenetic mechanisms involved in this condition. (Source: International Archives of Medicine)
Source: International Archives of Medicine - September 26, 2014 Category: Global & Universal Authors: Damith LiyanageLakmini PathberiyaInuka GooneratneKumarangie VithanageRanjanie Gamage Source Type: research