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Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease
Abstract Intermittent maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by a deficiency of branched chain α-ketoacid dehydrogenase (BCKD) complex. In contrast to classic MSUD, children with the intermittent form usually have an atypical clinical manifestation. Here, we describe the presenting symptoms and clinical course of a Chinese boy with intermittent MSUD. Mutation analysis identified two previously unreported mutations in exon 7 of the BCKDHB gene: c.767A > G (p.Y256C) and c.768C > G (p.Y256X); the parents were each heterozygous for one of these mutat...
Source: Metabolic Brain Disease - August 3, 2015 Category: Neurology Source Type: research

Functional capacity, cardiorespiratory fitness and quality of life in spinocerebellar ataxia: Implications for rehabilitation
European Journal of Physiotherapy, Ahead of Print. (Source: Advances in Physiotherapy)
Source: Advances in Physiotherapy - August 3, 2015 Category: Rehabilitation Tags: article Source Type: research

Neurological and Cerebellar Soft Signs do not discriminate schizophrenia from bipolar disorder patients
We examined 30 patients with BD, 30 patients with SZ and 28 control subjects using the Neurological Evaluation Scale (NES, for NSS) and International Cooperative Ataxia Rating Scale (ICARS, for CSS). SZ and BP did not differ in total and subscales’ scores in both NES and ICARS. Subscale analysis revealed that SZ performed significantly worse than controls in all the subscales of both NES and ICARS. BD patients scored significantly worse than controls in all NES subscales and in oculomotor and kinetic subscales of the ICARS, while other ICARS subscales did not differentiate those two groups. To our knowledge this is the f...
Source: Progress in Neuro Psychopharmacology and Biological Psychiatry - August 2, 2015 Category: Psychiatry Source Type: research

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
Conclusions: Our report describes the identification of the actual genetic cause underlying a severe syndrome that previous preliminary analyses erroneously associated to a terminal Xp22.33 region. In the present family as well as in previously reported patients with similar rearrangements, the observed neurologic phenotype is ascribable to MECP2 duplication, with an undefined contribution of the other involved genes. Maculopathy, presented by affected males reported here, could be a novel clinical feature associated to Xq28 disomy due to recombinant X chromosomes, but at present the underlying pathogenetic mechanism is un...
Source: Molecular Cytogenetics - August 1, 2015 Category: Molecular Biology Authors: Pamela MaginiMonica PoscenteSimona FerrariManuela VargioluElena BacchelliClaudio GrazianoAnita WischmeijerDaniela TurchettiElisabetta MalaspinaValentina MarchianiDuccio CordelliEmilio FranzoniGiovanni RomeoMarco Seri Source Type: research

Pediatric Opsoclonus-Myoclonus Ataxia Syndrome Associated with anti--methyl-D-Aspartate Receptor Encephalitis
The full clinical spectrum of anti-N-methyl-D-aspartate receptor encephalitis is yet unknown in the pediatric population. (Source: Pediatric Neurology)
Source: Pediatric Neurology - August 1, 2015 Category: Neurology Authors: Brittany Player, Matthew Harmelink, Brett Bordini, Michael Weisgerber, Michael Girolami, Michael Croix Tags: Clinical Observations Source Type: research

JUVENILE HUNTINGTON DISEASE Pediatric neurologist: look at the neuroimage
A 15-year-old female presented with ataxia, rigidity and developmental impairment for 5 years, developing a tendency to opisthotonos, progressive inability to walk and behavior modification for the last 6 months. She was the only child of non-consanguineous parents and her earlier development was unremarkable. Brain MRI showed bilateral caudate and putamen atrophy suggestive of juvenile Huntington disease (Figure) and genetic analysis revealed 80 CAG repeats in the HTT gene. The diagnosis, initially hindered by an absence of family history, was later corroborated by the information that both the father and paternal grandfa...
Source: Pediatric Neurology - August 1, 2015 Category: Neurology Authors: Lúcia H. Coutinho dos Santos, Arnolfo de Carvalho Neto, Salmo Raskin, Isac Bruck Tags: Visual Diagnosis Source Type: research

Adult‐onset cerebello‐brainstem dominant form of X‐linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review
We report a 69‐year‐old White man who was diagnosed with this rare disorder and describe neuropathologic, ultrastructural and genetic analyses. He did not have adrenal insufficiency or a family history of X‐ALD or Addison's disease. His initial symptom was temporary loss of eyesight at age 34 years. His major symptoms were chronic and progressive gait disorder, weakness in his lower extremities and spasticity, as well as autonomic failure and cerebellar ataxia suggesting possible multiple system atrophy (MSA). He also had seizures, hearing loss and sensory disturbances. His brain MRI showed no obvious atrophy or si...
Source: Neuropathology - July 31, 2015 Category: Neurology Authors: Kotaro Ogaki, Shunsuke Koga, Naoya Aoki, Wenlang Lin, Kinuko Suzuki, Owen A. Ross, Dennis W. Dickson Tags: Case Report Source Type: research

Microendoscopy-guided percutaneous cordotomy for intractable pain: case series of 24 patients.
CONCLUSIONS The use of percutaneous microendoscopic cordotomy with the double-channel technique is useful for specific manipulations of the spinal cord. It provides real-time visualization of the RF probe, thereby adding a degree of safety to the procedure. PMID: 26230468 [PubMed - as supplied by publisher] (Source: Journal of Neurosurgery)
Source: Journal of Neurosurgery - July 31, 2015 Category: Neurosurgery Authors: Fonoff ET, Lopez WO, de Oliveira YS, Teixeira MJ Tags: J Neurosurg Source Type: research

Pharmacological gating modulation of small- and intermediate-conductance Ca(2+)-activated K(+) channels (KCa2.x and KCa3.1).
Authors: Christophersen P, Wulff H Abstract This short review discusses pharmacological modulation of the opening/closing properties (gating) of small- and intermediate-conductance Ca(2+)-activated K(+) channels (KCa2 and KCa3.1) with special focus on mechanisms-of-action, selectivity, binding sites, and therapeutic potentials. Despite KCa channel gating-modulation being a relatively novel field in drug discovery, efforts in this area have already revealed a surprising plethora of pharmacological sites-of-actions and channel subtype selectivity exerted by different chemical classes. The currently published positive...
Source: Channels - July 29, 2015 Category: Molecular Biology Tags: Channels (Austin) Source Type: research

The neurobehavioral and molecular phenotype of Angelman syndrome
In this study we aim to contribute to understanding of the neurobehavioral phenotype of AS with particular focus on the neuropsychiatric presentation of the disorder. We also undertake initial exploration of brain‐derived neurotrophic factor (BDNF) plasma levels in AS. Twelve individuals ages 3 years or older with a confirmed genetic diagnosis of AS underwent detailed medical history, phenotypic characterization, and BDNF plasma sampling. The results of this study demonstrate that individuals with AS suffer from significant developmental delay, impaired adaptive behavior, and sleep disruption. Additionally, hyperactivity...
Source: American Journal of Medical Genetics Part A - July 29, 2015 Category: Genetics & Stem Cells Authors: Logan K. Wink, Sarah Fitzpatrick, Rebecca Shaffer, Sophia Melnyk, Amber H. Begtrup, Emma Fox, Tori L. Schaefer, Lauren Mathieu‐Frasier, Balmiki Ray, Debomoy Lahiri, Paul A. Horn, Craig A. Erickson Tags: Research Article Source Type: research

Metabolic annotation of 2-ethylhydracrylic acid
Publication date: 25 August 2015 Source:Clinica Chimica Acta, Volume 448 Author(s): Robert O. Ryan Increased levels of the organic acid, 2-ethylhydracrylic acid (2-EHA) occur in urine of subjects with impaired L(+)-isoleucine metabolism. Chiral intermediates formed during isoleucine degradation are (S) enantiomers. Blockage of (S) pathway flux drives racemization of (2S, 3S) L(+)-isoleucine and its (2S, 3R) stereoisomer, L(+)-alloisoleucine. This non-protein amino acid is metabolized to (R)-2-methylbutyryl CoA via enzymes common to branched chain amino acid degradation. Subsequently, (R) intermediates serve as alternate...
Source: Clinica Chimica Acta - July 28, 2015 Category: Laboratory Medicine Source Type: research

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke
Conclusions The novel mutation contributes to the expanding spectrum of disease-causing mutations. A definitive diagnosis can benefit our patient and also the relatives by avoiding sodium valproate induced liver toxicity in POLG patients and also the heterozygotes. (Source: Clinica Chimica Acta)
Source: Clinica Chimica Acta - July 28, 2015 Category: Laboratory Medicine Source Type: research

Axonal Spheroid Accumulation In the Brainstem and Spinal Cord of A Young Angus Cow with Ataxia
ConclusionsThe topographical distribution of axonal spheroids in the brain and spinal cord in this bovine case closely resembled that found in the ovine neurodegenerative disorder termed NAD, in which axonal swellings are the major pathological feature. This appears to be the first reported case of this type of NAD in cattle. The aetiology of the spheroidal aggregations in this case was not determined. There was no evidence from the case history or neuropathology to indicate whether the axonal spheroids in this case involved an acquired or heritable aetiology. (Source: Australian Veterinary Journal)
Source: Australian Veterinary Journal - July 28, 2015 Category: Veterinary Research Authors: DM Hanshaw, JW Finnie, J Manavis, AE Kessell Tags: PRODUCTION ANIMALS Source Type: research

Secondary Vein of Galen Malformation with Hydrocephalus: Treated with Combined Endovascular and Endoscopic Approach
Publication date: Available online 28 July 2015 Source:Interdisciplinary Neurosurgery Author(s): F.A. Zeiler, J. Silvaggio, D. Iancu, P.J. McDonald Our goal is to describe a case of hydrocephalus in the setting of a Yasargil Type IV-C secondary vein of Galen malformation (VGM), treated with a combined endscopic and endovascular approach. We retrospectively reviewed the records of a patient admitted to the neurosurgical department hydrocephalus related to a secondary VGM. A 47 year old male, presents with 8 months of progressive headaches and gait ataxia. Imaging displays a triventricular hydrocephalus, a tectal AVM, ...
Source: Interdisciplinary Neurosurgery - July 28, 2015 Category: Neurosurgery Source Type: research

Gene therapy with SOCS1 for gastric cancer induces G2/M arrest and has an antitumour effect on peritoneal carcinomatosis
Gene therapy with SOCS1 for gastric cancer induces G2/M arrest and has an antitumour effect on peritoneal carcinomatosis British Journal of Cancer 113, 433 (28 July 2015). doi:10.1038/bjc.2015.229 Authors: Rie Natatsuka, Tsuyoshi Takahashi, Satoshi Serada, Minoru Fujimoto, Tomohiro Ookawara, Toshirou Nishida, Hisashi Hara, Takahiko Nishigaki, Emi Harada, Takashi Murakami, Yasuhiro Miyazaki, Tomoki Makino, Yukinori Kurokawa, Makoto Yamasaki, Hiroshi Miyata, Kiyokazu Nakajima, Shuji Takiguchi, Tadamitsu Kishimoto, Masaki Mori, Yuichiro Doki & Tetsuji Naka (Source: British Journal of Cancer)
Source: British Journal of Cancer - July 28, 2015 Category: Cancer & Oncology Authors: Rie NatatsukaTsuyoshi TakahashiSatoshi SeradaMinoru FujimotoTomohiro OokawaraToshirou NishidaHisashi HaraTakahiko NishigakiEmi HaradaTakashi MurakamiYasuhiro MiyazakiTomoki MakinoYukinori KurokawaMakoto YamasakiHiroshi MiyataKiyokazu NakajimaShuji Takiguc Tags: gastric cancer suppressor of cytokine signalling ataxia telangiectasia and Rad3-related protein cell cycle arrest adenovirus vector gene therapy peritoneal carcinomatosis Source Type: research

LMNB1‐Related Autosomal‐Dominant Leukodystrophy: Clinical and Radiological Course
ObjectiveDuplication of the LMNB1 gene encoding lamin B1 causes adult‐onset autosomal‐dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to describe the natural clinical and radiological course of LMNB1‐related ADLD. MethodsTwenty‐three subjects in two families with LMNB1 duplications were studied over two decades with clinical assessment and MRI of the brain and spinal cord. They were 29 to 70 years old ...
Source: Annals of Neurology - July 27, 2015 Category: Neurology Authors: Johannes Finnsson, Jimmy Sundblom, Niklas Dahl, Atle Melberg, Raili Raininko Tags: Research Article Source Type: research

The influence of ATM, ATR, DNA-PK inhibitors on the cytotoxic and genotoxic effects of dibenzo[def,p]chrysene on human hepatocellular cancer cell line HepG2
Publication date: Available online 26 July 2015 Source:Mutation Research/Genetic Toxicology and Environmental Mutagenesis Author(s): Sylwia Spryszyńska, Anna Smok-Pieniążek, Magdalena Ferlińska, Joanna Roszak, Nocuń Marek, Maciej Stępnik The effect of inhibitors of phosphatidylinositol-3-kinase related kinases (PIKK): ataxia-telangiectasia mutated (ATM), ATM- and Rad3-related (ATR) and DNA-dependent protein kinase (DNA-PK) on the response of HepG2 human liver cancer cells to dibenzo[def,p]chrysene (DBC) was investigated. High cytotoxicity of DBC (IC50=0.1μM) was observed after 72 h incubation. PIKK inhibitor...
Source: Mutation Research Genetic Toxicology and Environmental Mutagenesis - July 27, 2015 Category: Genetics & Stem Cells Source Type: research

Modulation of ionizing radiation-induced effects by NU7441, KU55933 and VE821 in peripheral blood lymphocytes
In conclusion, KU55933 protected lymphocytes, which might be employed to preserve the immune system during anticancer therapy. NU7441 radiosensitized lymphocytes, thus, undesirable side effects toward immune system could be expected. VE821 showed decrease of γ-H2AX with no radiosensitizing effects in our model likely due to p53 positive status, which underlies the concept of its application in p53 negative environment. Graphical abstract (Source: Journal of Applied Biomedicine)
Source: Journal of Applied Biomedicine - July 27, 2015 Category: Biotechnology Source Type: research

Initiation of the ATM-Chk2 DNA damage response through the base excision repair pathway
This study highlights the crosstalk between BER and DDR that contributes to maintaining genomic integrity and may have clinical applications in cancer therapy. (Source: Carcinogenesis)
Source: Carcinogenesis - July 27, 2015 Category: Cancer & Oncology Authors: Chou, W.-C., Hu, L.-Y., Hsiung, C.-N., Shen, C.-Y. Tags: Original Manuscript Source Type: research

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations
Conclusions: In all patients, multifocal myoclonic jerks and seizures were a key feature, but myoclonic seizures were an early and prominent sign in the teenage/adult form only. Conversely, the childhood-onset form was characterized by initial and severe cognitive impairment coupled with electroretinogram and EEG attenuation. Cortical hyperexcitability, shown by the PPR and enlarged somatosensory evoked potentials, was a universal feature. (Source: Neurology)
Source: Neurology - July 27, 2015 Category: Neurology Authors: Canafoglia, L., Gilioli, I., Invernizzi, F., Sofia, V., Fugnanesi, V., Morbin, M., Chiapparini, L., Granata, T., Binelli, S., Scaioli, V., Garavaglia, B., Nardocci, N., Berkovic, S. F., Franceschetti, S. Tags: Metabolic disease (inherited), All Pediatric, Evoked Potentials/Somatosensory, Myoclonus; see Movement Disorders/myoclonus, EEG ARTICLE Source Type: research

E-088 successful mechanical thrombectomy for basilar artery stroke in a 22-month old child
We present the case of a 22-month-old with basilar artery occlusion successfully treated with mechanical thrombectomy.The patient presented to the emergency department with altered mental status and gait ataxia. She "felt limp", her breathing was shallow, and her gaze dysconjugate. Her medical history included congenital heart defects with multiple cardiac procedures.In the emergency department, she fell with attempted ambulation. Labs were normal, as was a chest x-ray, and EKG. A computerized tomography (CT) scan of the head suggested left cerebellar hemisphere attenuation. The differential included arrhythmia, stroke, or...
Source: Journal of NeuroInterventional Surgery - July 26, 2015 Category: Neurosurgery Authors: Roark, C., Savastano, L., Wilkinson, D., Shastri, R., Vadlamudi, V., Chaudhary, N., Pandey, A., Gemmete, J. Tags: SNIS 12th Annual Meeting Electronic Poster Abstracts Source Type: research

E-116 symptomatic thrombosed developmental venous anomaly
ConclusionAlthough the vast majority of DVAs are benign lesions, understanding the pathophysiological mechanisms behind symptomatic DVAs is important for treatment. We present a case of thrombosed DVA in the absence of additional vascular abnormality, thus justifying anticoagulation therapy. Differentiating a thrombosed DVA from a partially thrombosed arteriovenous malformation or dural fistula is vital as these other conditions may warrant surgery, radiosurgery or endovascular embolization.Abstract E-116 Figure 1(A) Axial FIESTA image shows edema in left side of the pons and brachium pontis causing mass effect on the four...
Source: Journal of NeuroInterventional Surgery - July 26, 2015 Category: Neurosurgery Authors: Amuluru, K., Alderazi, Y., Gandhi, C. Tags: SNIS 12th Annual Meeting Electronic Poster Abstracts Source Type: research

E-131 endovascular reconstruction of intradural vertebral artery fusiform dissecting aneurysms with the pipeline embolization device
ConclusionOur preliminary experience with endoluminal reconstruction of intradural dissecting VA aneurysms with the PED confirms this treatment approach to be feasible and safe with good short-term angiographic and clinical outcomes.Long-term and larger cohort studies will need to provide further information on durable aneurysm obliteration in response to hemodynamic intravascular flow changes and the occurrence of delayed hemorrhage and in-stent thrombosis. The promising results obtained so far, however, appear to support the use of flow diverter in the treatment of dissecting intracranial VA aneurysms; especially in circ...
Source: Journal of NeuroInterventional Surgery - July 26, 2015 Category: Neurosurgery Authors: Kuhn, A., Massari, F., Lozano, J., Hou, S., Howk, M., Perras, M., Brooks, C., Kan, P., Gounis, M., Wakhloo, A., Puri, A. Tags: SNIS 12th Annual Meeting Electronic Poster Abstracts Source Type: research

Steroid responsive encephalopathy associated with autoimmune thyroiditis following ipilimumab therapy: a case report
Conclusion: Steroid responsive encephalopathy associated with autoimmune thyroiditis may be a hitherto unrecognized complication of ipililumab treatment and should be taken into consideration in patients developing central nervous symptoms undergoing this treatment. (Source: Epidemiologic Perspectives and Innovations)
Source: Epidemiologic Perspectives and Innovations - July 25, 2015 Category: Epidemiology Authors: David CarlCarsten GrüllichSteffen HeringMartin Schabet Source Type: research

A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study
Conclusion: Novel gene mutation and associated clinical symptoms can contribute for the understanding and identification of this rare disease. Possible genotype-phenotype correlation waits for further study. (Source: BMC Neurology)
Source: BMC Neurology - July 25, 2015 Category: Neurology Authors: Hongfei TaiZaiqiang Zhang Source Type: research

Prominent cognitive decline and behavioural disturbance in late-onset Alexander disease
Alexander disease (AxD) is a rare genetic leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene, and typically present in children. An adult-onset form of the disease is being increasingly recognised, and presents commonly with progressive ataxia, bulbar and pyramidal features, and dysautonomia [1–3]. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - July 25, 2015 Category: Neurology Authors: Pablo Garcia Reitboeck, Andrew D. MacKinnon, Meriel McEntagart, Christian Lambert, Matthew Edwardsd, Salah Omera Source Type: research

Role of neuroimaging in multidisciplinary approach towards Non-Alzheimer’s dementia
Abstract Dementia is defined as chronic deterioration of intellectual function and cognitive skills significant enough to interfere with the ability to perform daily activities. Recent advances in the treatment of dementia have renewed interest in the use of various neuroimaging techniques that can assist in the diagnosis and differentiation of various subtypes. Neuroimaging and computational techniques have helped the radiological community to monitor disease progression of various neurodegenerative conditions presenting with dementia, such as Alzheimer disease, frontotemporal lobe dementia (FTLD), progressive su...
Source: Insights into Imaging - July 24, 2015 Category: Radiology Source Type: research

Antibodies to dendritic neuronal surface antigens in opsoclonus myoclonus ataxia syndrome
Opsoclonus myoclonus ataxia syndrome (OMAS) is an autoimmune disorder characterized by rapid, random, conjugate eye movements (opsoclonus), myoclonus, and ataxia. Given these symptoms, autoantibodies targeting the cerebellum or brainstem could mediate the disease or be markers of autoimmunity. In a subset of patients with OMAS, we identified such autoantibodies, which bind to non-synaptic puncta on the surface of live cultured cerebellar and brainstem neuronal dendrites. These findings implicate autoimmunity to a neuronal surface antigen in the pathophysiology of OMAS. (Source: Journal of Neuroimmunology)
Source: Journal of Neuroimmunology - July 24, 2015 Category: Allergy & Immunology Authors: Jessica A. Panzer, Ronan Anand, Josep Dalmau, David R. Lynch Source Type: research

Expanding the spectrum of neuronal pathology in multiple system atrophy
This study aimed to further define the spectrum of neuronal pathology in 35 patients with multiple system atrophy (20 male, 15 female; mean age at death 64.7 years; median disease duration 6.5 years, range 2.2 to 15.6 years). The morphologic type, topography, and frequencies of neuronal inclusions, including globular cytoplasmic (Lewy body-like) neuronal inclusions, were determined across a wide spectrum of brain regions. A correlation matrix of pathologic severity also was calculated between distinct anatomic regions of involvement (striatum, substantia nigra, olivary and pontine nuclei, hippocampus, forebrain and thalamu...
Source: Brain - July 23, 2015 Category: Neurology Authors: Cykowski, M. D., Coon, E. A., Powell, S. Z., Jenkins, S. M., Benarroch, E. E., Low, P. A., Schmeichel, A. M., Parisi, J. E. Tags: Neurodegeneration - Cellular & Molecular Original Articles Source Type: research

Peroxisomal disorders: a review on cerebellar pathologies
Abstract Peroxisomes are organelles with diverse metabolic tasks including essential roles in lipid metabolism. They are of utmost importance for the normal functioning of the nervous system as most peroxisomal disorders are accompanied with neurological symptoms. Remarkably, the cerebellum exquisitely depends on intact peroxisomal function both during development and adulthood. In this review we cover all aspects of cerebellar pathology that were reported in peroxisome biogenesis disorders and in diseases due to dysfunction of the peroxisomal α‐oxidation, β‐oxidation or ether lipid synthesis pathways. We also discus...
Source: Brain Pathology - July 23, 2015 Category: Neurology Authors: Stephanie De Munter, Simon Verheijden, Luc Régal, Myriam Baes Tags: Review Source Type: research

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Conclusions This work illustrates how combining advanced sequencing techniques with phenotypic data addresses extreme genetic heterogeneity to provide diagnostic and carrier testing, guide medical monitoring for progressive complications, facilitate interpretation of genome-wide sequencing results in individuals with a variety of phenotypes and enable gene-specific treatments in the future. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - July 23, 2015 Category: Genetics & Stem Cells Authors: Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O'Roak, B. J., Knutzen, D. M., Rue, T. C., Ishak, G. E., Isabella, C. R., Gorden, N., Adkins, J., Boyle, E. A., de Lacy, N., O'Day, D., Alswaid, A., Ramadevi A, R., Lingappa, L., Lourenco, C., Martorell Tags: Liver disease, Eye Diseases, Editor's choice, Genetic screening / counselling, Memory disorders (psychiatry) Genotype-phenotype correlations Source Type: research

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia
We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare, often fatal syndrome, initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. Linkage analysis was performed and the disease locus narrowed to chromosome 19p13.3. Fourteen candidate genes were screened by conventional Sanger sequencing and in one, LMNB2, a novel homozygous missense mutation was identified that segregated with the PME in the family. Whole exome sequencing excluded other likely pathoge...
Source: Human Molecular Genetics - July 23, 2015 Category: Genetics & Stem Cells Authors: Damiano, J. A., Afawi, Z., Bahlo, M., Mauermann, M., Misk, A., Arsov, T., Oliver, K. L., Dahl, H.-H. M., Shearer, A. E., Smith, R. J. H., Hall, N. E., Mahmood, K., Leventer, R. J., Scheffer, I. E., Muona, M., Lehesjoki, A.-E., Korczyn, A. D., Herrmann, H. Tags: ARTICLES Source Type: research

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway
In this study, we show that aprataxin deficiency impairs mitochondrial function, independent of its role in mitochondrial DNA repair. The bioenergetics defect in AOA1-mutant fibroblasts and APTX-depleted Hela cells is caused by decreased expression of SDHA and genes encoding CoQ biosynthetic enzymes, in association with reductions of APE1, NRF1 and NRF2. The biochemical and molecular abnormalities in APTX-depleted cells are recapitulated by knockdown of APE1 in Hela cells and are rescued by overexpression of NRF1/2. Importantly, pharmacological upregulation of NRF1 alone by 5-aminoimidazone-4-carboxamide ribonucleotide doe...
Source: Human Molecular Genetics - July 23, 2015 Category: Genetics & Stem Cells Authors: Garcia-Diaz, B., Barca, E., Balreira, A., Lopez, L. C., Tadesse, S., Krishna, S., Naini, A., Mariotti, C., Castellotti, B., Quinzii, C. M. Tags: ARTICLES Source Type: research

More Falls in Cerebellar Ataxia When Standing on a Slow Up-Moving Tilt of the Support Surface.
This study underscores the importance of the cerebellum in the online sensory control of the upper body orientation during small amplitude and slow velocity movements of the support surface. PMID: 26202671 [PubMed - as supplied by publisher] (Source: Cerebellum)
Source: Cerebellum - July 23, 2015 Category: Neuroscience Authors: Paquette C, Franzén E, Horak FB Tags: Cerebellum Source Type: research

Decreasing fall risk in spinocerebellar ataxia - Santos de Oliveira LA, Martins CP, Horsczaruk CH, Lima da Silva DC, Martins JV, Vasconcelos LF, Rodrigues Ede C.
[Purpose] Spinocerebellar ataxia consists of a group of autosomal dominant disorders that cause progressive degeneration, mainly in the cerebellum and its connections. Falls, which are a significant concern of this condition, reduce patients' mobility, det... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - July 22, 2015 Category: Global & Universal Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news

More Falls in Cerebellar Ataxia When Standing on a Slow Up-Moving Tilt of the Support Surface
This study underscores the importance of the cerebellum in the online sensory control of the upper body orientation during small amplitude and slow velocity movements of the support surface. (Source: The Cerebellum)
Source: The Cerebellum - July 22, 2015 Category: Neurology Source Type: research

Ataxia and Its Association with Hearing Impairment in Childhood Bacterial Meningitis
Conclusions: Ataxia is more frequent and lasts longer after BM than learned from previous studies. The presence and intensity of ataxia associate with hearing loss and its magnitude. (Source: The Pediatric Infectious Disease Journal)
Source: The Pediatric Infectious Disease Journal - July 22, 2015 Category: Infectious Diseases Tags: Original Studies Source Type: research

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy
p; Hubert J M Smeets (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 22, 2015 Category: Genetics & Stem Cells Authors: Minh NguyenIris BoestenDebby M E I HellebrekersJo VanoevelenRick KampsBart de KoningIrenaeus F M de CooMike GerardsHubert J M Smeets Source Type: research

Sun1 deficiency leads to cerebellar ataxia in mice [RESEARCH ARTICLE]
ABSTRACT Migration and organization of the nucleus are essential for the proliferation and differentiation of cells, including neurons. However, the relationship between the positioning of the nucleus and cellular morphogenesis remains poorly understood. Inherited recessive cerebellar ataxia has been attributed to mutations in SYNE1, a component of the linker of nucleoskeleton and cytoskeleton (LINC) complex. Regardless, Syne1-mutant mice present with normal cerebellar development. The Sad1-Unc-84 homology (SUN)-domain proteins are located at the inner nuclear membrane and recruit Syne proteins through the KASH domain to t...
Source: DMM Disease Models and Mechanisms - July 22, 2015 Category: Biomedical Science Authors: Wang, J.-Y., Yu, I.- S., Huang, C.-C., Chen, C.-Y., Wang, W.-P., Lin, S.-W., Jeang, K.-T., Chi, Y.-H. Tags: RESEARCH ARTICLE Source Type: research

Psychotic syndrome associated with anti-Ca/ARHGAP26 and voltage-gated potassium channel antibodies
Antibodies to the Rho GTPase-activating protein 26 (ARHGAP26, GRAF1) (also termed anti-Ca) were first described in patients with cerebellar ataxia. However, ARHGAP26 is also expressed in some hippocampal neurons. Moreover, some of the previously reported patients showed cognitive and affective symptoms. It is unknown whether those symptoms reflected involvement of the limbic system or were part of the so-called cerebellar cognitive/affective syndrome. Case report: Here, we report a newly diagnosed anti-Ca/ARHGAP26-IgG-positive patient who presented with recurrent psychotic symptoms but no cerebellar ataxia. (Source: Journa...
Source: Journal of Neuroimmunology - July 22, 2015 Category: Allergy & Immunology Authors: S. Jarius, B. Wildemann, W. Stöcker, A. Moser, K.P. Wandinger Source Type: research

SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group
The combination of cerebellar ataxia and spasticity is common. However, autosomal dominant genetic diseases presenting with spastic-ataxia are a smaller group. Pyramidal signs have been frequently observed in several SCA subtypes, particularly in spinocerebellar ataxia type 1. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 22, 2015 Category: Neurology Authors: José Luiz Pedroso, Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Pedro Braga-Neto, Marcus Vinicius Cristino Albuquerque, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando Graziani Povoas Barsottini Tags: Short communication Source Type: research

Successful Treatment of Electrographic Status Epilepticus of Sleep with Felbamate in a Patient with Mutation
Our aim is to report on the presence and treatment of electrographic status epilepticus of sleep (ESES) in a patient with a mutation in SLC9A6 and epilepsy. Mutations in SLC9A6 may cause an X-linked clinical syndrome first described by Christianson in 1999 in which affected males had a profound intellectual disability, autism, drug-resistant epilepsy, opthalmoplegia, mild craniofacial dysmorphisms, microcephaly, and ataxia. (Source: Pediatric Neurology)
Source: Pediatric Neurology - July 22, 2015 Category: Neurology Authors: Rohini Coorg, Judith LZ. Weisenberg Tags: Clinical Observations Source Type: research

Linking ATM Promoter Methylation to Cell Cycle Protein Expression in Brain Tumor Patients: Cellular Molecular Triangle Correlation in ATM Territory
Abstract Ataxia telangiectasia mutated (ATM) is a key gene in DNA double-strand break (DSB), and therefore, most of its disabling genetic alterations play an important initiative role in many types of cancer. However, the exact role of ATM gene and its epigenetic alterations, especially promoter methylation in different grades of brain tumors, remains elusive. The current study was conducted to query possible correlations among methylation statue of ATM gene, ATM/ retinoblastoma (RB) protein expression, D1853N ATM polymorphism, telomere length (TL), and clinicopathological characteristics of various types of brai...
Source: Molecular Neurobiology - July 21, 2015 Category: Neurology Source Type: research

A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population
Abstract Multiple sclerosis (MS) is a complex autoimmune disease originated from the interplay between genetic and environmental factors. An overlap of clinical and neuroradiological parameters has been described between MS and an adult-onset neurodegenerative disorder, the fragile-X-associated tremor/ataxia syndrome (FXTAS). This syndrome is caused by a trinucleotide premutation expansion of a CGG sequence in the 55–200 repeat range, which is located in the fragile-X mental retardation 1 (FMR1) gene. Female premutation carriers have an increased propensity for immune-mediated disorders. Recently, a case of co-o...
Source: Neurological Sciences - July 21, 2015 Category: Neurology Source Type: research

Axonal neuropathy in female carriers of the fragile X premutation with fragile x–associated tremor ataxia syndrome
Conclusions: This study suggests an underlying axonal neuropathy in women with FXTAS. However, in comparison to men with FXTAS, the NCS abnormalities in women were less severe, possibly due to the effect of a normal X chromosome. Muscle Nerve 52: 234–239, 2015 (Source: Muscle and Nerve)
Source: Muscle and Nerve - July 21, 2015 Category: Internal Medicine Authors: Suresh Ram, Inoka A. Devapriya, Grace Fenton, Lindsey Mcvay, Danh V. Nguyen, Flora Tassone, Ricardo A. Maselli, Randi J. Hagerman Tags: Research Article Source Type: research

Dual inhibition of acetylcholinesterase and butyrylcholinesterase enzymes by allicin
Conclusions: Allicin shows a potential to ameliorate the decline of cognitive function and memory loss associated with AD by inhibiting cholinesterase enzymes and upregulate the levels of acetylcholine (ACh) in the brain. It can be used as a new lead to target AChE and BuChE to upregulate the level of ACh which will be useful in alleviating the symptoms associated with AD. (Source: Indian Journal of Pharmacology)
Source: Indian Journal of Pharmacology - July 21, 2015 Category: Drugs & Pharmacology Authors: Suresh Kumar Source Type: research

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment.
CONCLUSION: These cases highlight the relevance of actively searching for myoclonus in childhood-onset neurogenetic disorders, even when a molecular diagnosis has already been established. To further improve the awareness and recognition of myoclonus in children, we provide a list of childhood-onset neurogenetic disorders with myoclonus as important associated feature. PMID: 26232052 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - July 21, 2015 Category: Neurology Authors: van Egmond ME, Elting JW, Kuiper A, Zutt R, Heineman KR, Brouwer OF, Sival DA, Willemsen MA, Tijssen MA, de Koning TJ Tags: Eur J Paediatr Neurol Source Type: research

A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family
Abstract Pathogenic mutations in the OPA1 gene can be associated with Autosomal Dominant Optic Atrophy (ADOA). In approximately 20 % of patients with OPA1 mutations, a more complex neurodegenerative disorder with extraocular manifestations, known as ADOA Plus, can arise. 12 members of a multigenerational family were assessed clinically and screened for a genetic mutation in OPA1. Eight family members displayed manifestations consistent with ADOA Plus and four did not. Affected members of the oldest available generation displayed the most severe phenotype, which included severe optic atrophy, deafness, ptosis, oph...
Source: Journal of Neurology - July 20, 2015 Category: Neurology Source Type: research

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
Conclusions: We identified a de novo KCND3 mutation causing the most marked change in Kv4.3’s channel properties reported so far, which correlated with a severe and unique spinocerebellar ataxia (SCA) type 19/22 disease phenotype. (Source: BioMed Central)
Source: BioMed Central - July 20, 2015 Category: Journals (General) Authors: Katrien SmetsAnna DuarriTine DeconinckBerten CeulemansBart van de WarrenburgStephan ZüchnerMichael GonzalezRebecca SchüleMatthis SynofzikNathalie Van der AaPeter De JongheDineke VerbeekJonathan Baets Source Type: research

Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review
Conclusions These results suggested that the VADs might be associated with the increased occurrence of the motor deficits. Moreover, the VADs might act as a protective modifier of the disease course of AD. (Source: Neuroscience and Biobehavioral Reviews)
Source: Neuroscience and Biobehavioral Reviews - July 20, 2015 Category: Neuroscience Source Type: research