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A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan
Conclusions: Information regarding the progression of ataxia and the decline in the activities of daily living (ADL) in patients with SCA6 was obtained by a 3-year cohort study and a 7-year IDR study. The decline of the SARA score of patients with SCA6 was 1.33???1.40 points/year. The results elucidate the natural history of SCA6, factors influencing disease severity, and utility of data from the IDR registry of Japan. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 23, 2014 Category: Internal Medicine Authors: Kenichi YasuiIchiro YabeKunihiro YoshidaKazuaki KanaiKimihito AraiMizuki ItoOsamu OnoderaShigeru KoyanoEiji IsozakiSetsu SawaiYoshiki AdachiHidenao SasakiSatoshi KuwabaraTakamichi HattoriGen SobueHidehiro MizusawaShoji TsujiMasatoyo NishizawaKenji Nakashi Source Type: research

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
We report a large family with a late-onset phenotype including motor neuron disease, cognitive decline resembling frontotemporal dementia, cerebellar ataxia and myopathy. In all patients, muscle biopsy showed ragged-red and cytochrome c oxidase-negative fibres with combined respiratory chain deficiency and abnormal assembly of complex V. The multiple mitochondrial DNA deletions found in skeletal muscle revealed a mitochondrial DNA instability disorder. Patient fibroblasts present with respiratory chain deficiency, mitochondrial ultrastructural alterations and fragmentation of the mitochondrial network. Interestingly, expre...
Source: Brain - July 23, 2014 Category: Neurology Authors: Bannwarth, S., Ait-El-Mkadem, S., Chaussenot, A., Genin, E. C., Lacas-Gervais, S., Fragaki, K., Berg-Alonso, L., Kageyama, Y., Serre, V., Moore, D. G., Verschueren, A., Rouzier, C., Le Ber, I., Auge, G., Cochaud, C., Lespinasse, F., N'Guyen, K., de Septen Tags: Original Articles Source Type: research

Anti‐nociceptive and sedative effects of romifidine, tramadol and their combination administered intravenously slowly in ponies
ConclusionTramadol combined with romifidine at the stated doses proved an effective sedative and anti‐nociceptive combination in ponies, with no unacceptable behavioural or physiologic side effects. Clinical relevanceSlow controlled administration of tramadol should reduce the occurrence of adverse behavioural side effects. (Source: Veterinary Anaesthesia and Analgesia)
Source: Veterinary Anaesthesia and Analgesia - July 21, 2014 Category: Veterinary Research Authors: Giovanna L Costa, Santo Cristarella, Marco Quartuccio, Claudia Interlandi Tags: Short Communication Source Type: research

Atm deletion with dual recombinase technology preferentially radiosensitizes tumor endothelium
Cells isolated from patients with ataxia telangiectasia are exquisitely sensitive to ionizing radiation. Kinase inhibitors of ATM, the gene mutated in ataxia telangiectasia, can sensitize tumor cells to radiation therapy, but concern that inhibiting ATM in normal tissues will also increase normal tissue toxicity from radiation has limited their clinical application. Endothelial cell damage can contribute to the development of long-term side effects after radiation therapy, but the role of endothelial cell death in tumor response to radiation therapy remains controversial. Here, we developed dual recombinase technology usin...
Source: Journal of Clinical Investigation - July 18, 2014 Category: Biomedical Science Authors: Everett J. Moding, Chang-Lung Lee, Katherine D. Castle, Patrick Oh, Lan Mao, Shan Zha, Hooney D. Min, Yan Ma, Shiva Das, David G. Kirsch Source Type: research

The human δ2 glutamate receptor gene is not mutated in spinocerebellar ataxia patients
(Neural Regeneration Research) Recent studies have demonstrated that glutamate receptor δ2 gene (GRID2) is closely related to cerebellar functions in mice. This gene is predominantly located in postsynaptic dendrites of parallel fiber-Purkinje cell synapses in the cerebellum and contains potential fragile sites within large introns. These fragile sites easily develop spontaneous mutation, which leads to Purkinje cell death, contributing to the manifestation of spinocerebellar ataxia in mice. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 17, 2014 Category: Global & Universal Source Type: news

Altered corticomotor‐cerebellar integrity in young ataxia telangiectasia patients
Abstract Magnetic resonance imaging (MRI) research in identifying altered brain structure and function in ataxia‐telangiectasia, an autosomal recessive neurodegenerative disorder, is limited. Diffusion‐weighted MRI were obtained from 11 ataxia telangiectasia patients (age range, 7‐22 years; mean, 12 years) and 11 typically developing age‐matched participants (age range, 8‐23 years; mean, 13 years). Gray matter volume alterations in patients were compared with those of healthy controls using voxel‐based morphometry, whereas tract‐based spatial statistics was employed to elucidate white matter microstructure di...
Source: Movement Disorders - July 17, 2014 Category: Neurology Authors: Ishani Sahama, Kate Sinclair, Simona Fiori, Kerstin Pannek, Martin Lavin, Stephen Rose Tags: Research Article Source Type: research

Loss of Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome.
Conclusion: These results suggest that NTE-dependent alteration of phosholipid homeostasis in GHS causes both neurodegeneration and impaired LH release from pituitary gonadotropes leading to nHH. PMID: 25033069 [PubMed - as supplied by publisher] (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - July 17, 2014 Category: Endocrinology Authors: Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR Tags: J Clin Endocrinol Metab Source Type: research

Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia.
Abstract Friedreich ataxia (FRDA) is an autosomal recessive disease with gait ataxia being the main source of morbidity. Mobility progressively declines, from initial symptom onset at approximately 10-15 years of age to being unable to ambulate 10-15 years later. Here, we sought to investigate the relationship between spatiotemporal gait parameters and clinical markers of disease severity. Thirteen people with FRDA walked along an 8.3-m GAITRite® mat six times each at their preferred fast and slow speeds. Relationships between spatiotemporal gait parameters and a range of clinical and disease characteristics were ...
Source: Cerebellum - July 16, 2014 Category: Neuroscience Authors: Milne SC, Hocking DR, Georgiou-Karistianis N, Murphy A, Delatycki MB, Corben LA Tags: Cerebellum Source Type: research

Dicentrics propagate DNA breaks developmentally [Genetics]
Mature IgM+ B-cell lymphomas that arise in certain ataxia telangiectasia-mutated (ATM)-deficient compound mutant mice harbor translocations that fuse V(D)J recombination-initiated IgH double-strand breaks (DSBs) on chromosome 12 to sequences downstream of c-myc on chromosome 15, generating dicentric chromosomes and c-myc amplification via a breakage-fusion-bridge mechanism. As V(D)J recombination DSBs occur... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - July 15, 2014 Category: Science Authors: Hu, J., Tepsuporn, S., Meyers, R. M., Gostissa, M., Alt, F. W. Tags: Biological Sciences Source Type: research

A Rare Case of Ataxia Telangiectasia in a Nine Year Old Female Child
(Source: Pediatric Neurology)
Source: Pediatric Neurology - July 15, 2014 Category: Neurology Authors: Jakkampudi NagaSravani, Swathi Chacham, Uppin Narayan Reddy, Jillalla Narsing Rao, S. Pratap Rao, Afreen Mahmood Source Type: research

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome
Abstract Objective: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X‐linked Na+/H+ Exchanger 6 (NHE6). We aimed to determine the diagnostic criteria and mutational spectrum for CS. Methods: Twelve independent pedigrees (14 boys, ages 4 to 19) with mutations in NHE6 were administered standardized research assessments and mutations were characterized. Results: The mutational spectrum was composed of 9 single nucleotide variants (SNVs), 2 indels and 1 CNV deletion. All mutations were protein‐truncating or splicing mutations. We identified two recurrent mutations (c.1498 c>t, p...
Source: Annals of Neurology - July 14, 2014 Category: Neurology Authors: Matthew F. Pescosolido, David M. Stein, Michael Schmidt, Christelle Moufawad El Achkar, Mark Sabbagh, Jeffrey M. Rogg, Umadevi Tantravahi, Rebecca L. McLean, Judy S. Liu, Annapurna Poduri, Eric M. Morrow Tags: Research Article Source Type: research

Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
More than 1,000 mutations mapping to 60 different loci have been recognized as the cause of hereditary ataxias. However, almost 50% of the cases are still genetically uncharacterized, with etiology remaining to be identified.1 Diagnosis and research in rare diseases such as ataxia has been significantly improved with the recent availability of next-generation sequencing technologies.2 In order to expand the phenotype recently described in ataxia due to STUB1 mutations and to illustrate the utility of clinical genomics in the diagnosis of ataxias, we present a 23-year-old patient who had ataxia plus myoclonus in whom exome ...
Source: Neurology - July 14, 2014 Category: Neurology Authors: Cordoba, M., Rodriguez-Quiroga, S., Gatto, E. M., Alurralde, A., Kauffman, M. A. Tags: Gait disorders/ataxia, Spinocerebellar ataxia, Cerebellum, All Genetics CLINICAL/SCIENTIFIC NOTES Source Type: research

[Accidental finding of a cri du chat syndrome in an adult patient by means of array-CGH].
CONCLUSIONS. The multiple gene deletions confirmed the CDCS diagnosis, being responsible for the patient phenotype. It has been showed up the importance of using the correct diagnosis techniques (array-CGH, peripheral blood karyotype) as well as their appropriate choice. PMID: 25005318 [PubMed - in process] (Source: Revista de Neurologia)
Source: Revista de Neurologia - July 13, 2014 Category: Neurology Authors: Ferreiros-Martinez R, Lopez-Manzanares L, Alonso-Cerezo C Tags: Rev Neurol Source Type: research

Mussel Beach: Paralytic Shellfish Poisoning
3 out of 5 stars Paralytic Shellfish Poisoning: A Case Series. Hurley W et al. West J Emerg Med 2014 Jul;15:378-381. Full Text Paralytic shellfish poisoning (PSP)is caused by saxitoxin,  an alkaloid produced by certain marine dinoflagellates and released during algae blooms that produce a so-called “red tide.” (Actually, the water can be various colors, or even clear, during these blooms.) The toxin is then taken up and concentrated by filter-feeding mollusks, including oysters, clams and mussels. Like tetrodotoxin, saxitoxin is a sodium-channel blocker. It causes mostly neurotoxicity and gastrointestinal s...
Source: The Poison Review - July 11, 2014 Category: Toxicology Authors: Leon Tags: Medical dinoflagellate marine toxicity mollusks mussels neurotoxicity paralytic shellfish poisoning saxitoxin Source Type: news

The Nesprin Family Member ANC-1 Regulates Synapse Formation and Axon Termination by Functioning in a Pathway with RPM-1 and β-Catenin
by Erik D. Tulgren, Shane M. Turgeon, Karla J. Opperman, Brock Grill Mutations in Nesprin-1 and 2 (also called Syne-1 and 2) are associated with numerous diseases including autism, cerebellar ataxia, cancer, and Emery-Dreifuss muscular dystrophy. Nesprin-1 and 2 have conserved orthologs in flies and worms called MSP-300 and abnormal nuclear Anchorage 1 (ANC-1), respectively. The Nesprin protein family mediates nuclear and organelle anchorage and positioning. In the nervous system, the only known function of Nesprin-1 and 2 is in regulation of neurogenesis and neural migration. It remains unclear if Nesprin-1 and 2 regulat...
Source: PLoS Genetics - July 10, 2014 Category: Genetics & Stem Cells Authors: Erik D. Tulgren et al. Source Type: research

The Small Heat Shock Protein HspB8: Role in Nervous System Physiology and Pathology.
Abstract The accumulation and aggregation of misfolded proteins can be highly cytotoxic and may underlie several human degenerative diseases characterized by neuronal inclusions such as Alzheimer's, Parkinson's, prion-like and polyglutamine repeat diseases. In this context small heat shock proteins, molecular chaperones known to be induced by cell stress, play a fundamental role by facilitating folding of nascent polypeptides, preventing aggregation of misfolded proteins and enhancing their degradation. A recently identified member of the small heat shock protein family, HSPB8, is of particular interest in the fiel...
Source: CNS and Neurological Disorders Drug Targets - July 10, 2014 Category: Drugs & Pharmacology Authors: Vicario M, Skaper SD, Negro A Tags: CNS Neurol Disord Drug Targets Source Type: research

Utility and safety of rituximab in pediatric autoimmune and inflammatory CNS disease
Conclusion: While limited by the retrospective nature of this analysis, our data support an off-label use of rituximab, although the significant risk of infectious complications suggests rituximab should be restricted to disorders with significant morbidity and mortality. Classification of evidence: This study provides Class IV evidence that in pediatric autoimmune and inflammatory CNS disorders, rituximab improves neurologic outcomes with a 7.6% risk of adverse infections. (Source: Neurology)
Source: Neurology - July 7, 2014 Category: Neurology Authors: Dale, R. C., Brilot, F., Duffy, L. V., Twilt, M., Waldman, A. T., Narula, S., Muscal, E., Deiva, K., Andersen, E., Eyre, M. R., Eleftheriou, D., Brogan, P. A., Kneen, R., Alper, G., Anlar, B., Wassmer, E., Heineman, K., Hemingway, C., Riney, C. J., Kornbe Tags: Autoimmune diseases, Encephalitis, All Demyelinating disease (CNS) ARTICLE Source Type: research

Enterovirus 71 outbreak in Northern Sydney, 2013: Case series and initial response
ConclusionsEV71 is in Australia and all clinicians seeing children in primary, secondary and tertiary care centres need to be aware of the disease, the subtle nature of initial symptoms and the potentially devastating consequences. (Source: Journal of Paediatrics and Child Health)
Source: Journal of Paediatrics and Child Health - July 7, 2014 Category: Pediatrics Authors: Emily Horsley, E Just, C Torres, E Huhtinen, B Forssman, R Slade Tags: Original Article Source Type: research

Regulation of Motor Function and Behavior by Atypical Chemokine Receptor 1.
Abstract Atypical Chemokine Receptor 1 (ACKR1), previously known as Duffy Antigen Receptor for Chemokines, stands out among chemokine receptors for high selective expression on cerebellar Purkinje neurons. Although ACKR1 ligands activate Purkinje cells in vitro, evidence for ACKR1 regulation of brain function in vivo is lacking. Here we demonstrate that Ackr1 (-/-) mice have markedly impaired balance and ataxia on a rotating rod and increased tremor when injected with harmaline, which induces whole-body tremor by activating Purkinje cells. Ackr1 (-/-) mice also exhibited impaired exploratory behavior, increased anx...
Source: Behavior Genetics - July 6, 2014 Category: Genetics & Stem Cells Authors: Schneider EH, Fowler SC, Lionakis MS, Swamydas M, Holmes G, Diaz V, Munasinghe J, Peiper SC, Gao JL, Murphy PM Tags: Behav Genet Source Type: research

Gluten Ataxia in Japan.
Abstract Gluten ataxia, a type of cerebellar ataxia caused by exposure to gluten in sensitive patients, has been considered common in the USA and Europe, and rare in Asia. We measured anti-deamidated gliadin peptide (DGP) antibody levels in 49 patients with cerebellar ataxia, excluding those with multiple system atrophy, hereditary spinocerebellar ataxia, or cancer, as well as those who were receiving oral administration of phenytoin. Anti-DGP antibody was positive in eight (16.3 %) patients, five of these patients were positive only for IgA, one was positive for both IgG and IgA, and two were positive only for Ig...
Source: Cerebellum - July 6, 2014 Category: Neuroscience Authors: Nanri K, Mitoma H, Ihara M, Tanaka N, Taguchi T, Takeguchi M, Ishiko T, Mizusawa H Tags: Cerebellum Source Type: research

[Haematuria associated with ataxia telangiectasia disease: A literature review and a proposed treatment for a difficult to manage haematuria.]
PMID: 25008249 [PubMed - as supplied by publisher] (Source: Anales de Pediatria)
Source: Anales de Pediatria - July 5, 2014 Category: Pediatrics Authors: Perez-Etchepare E, Rodríguez Chitiva HA, García Nieto V, Luis Yanes MI, Antón Hernández L Tags: An Pediatr (Barc) Source Type: research

One-year follow-up of transgene expression by integrase-defective lentiviral vectors and their therapeutic potential in spinocerebellar ataxia model mice
gi & H Hirai (Source: Gene Therapy)
Source: Gene Therapy - July 3, 2014 Category: Genetics & Stem Cells Authors: H SaidaY MatsuzakiK TakayamaA IizukaA KonnoS YanagiH Hirai Source Type: research

Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study
Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study Neuropsychopharmacology advance online publication, July 2 2014. doi:10.1038/npp.2014.122 Authors: Jin-Chen Yang, Yu-Qiong Niu, Christa Simon, Andreea L Seritan, Lawrence Chen, Andrea Schneider, Shayan T Moghaddam, Paul J Hagerman, Randi J Hagerman & John M Olichney Keywords: (Source: Neuropsychopharmacology)
Source: Neuropsychopharmacology - July 2, 2014 Category: Neurology Authors: Jin-Chen YangYu-Qiong NiuChrista SimonAndreea L SeritanLawrence ChenAndrea SchneiderShayan T MoghaddamPaul J HagermanRandi J HagermanJohn M Olichney Source Type: research

SUMOylation of ATRIP potentiates DNA damage signaling by boosting multiple protein interactions in the ATR pathway [Research Papers]
The ATR (ATM [ataxia telangiectasia-mutated]- and Rad3-related) checkpoint is a crucial DNA damage signaling pathway. While the ATR pathway is known to transmit DNA damage signals through the ATR–Chk1 kinase cascade, whether post-translational modifications other than phosphorylation are important for this pathway remains largely unknown. Here, we show that protein SUMOylation plays a key role in the ATR pathway. ATRIP, the regulatory partner of ATR, is modified by SUMO2/3 at K234 and K289. An ATRIP mutant lacking the SUMOylation sites fails to localize to DNA damage and support ATR activation efficiently. Surprising...
Source: Genes and Development - July 2, 2014 Category: Genetics & Stem Cells Authors: Wu, C.-S., Ouyang, J., Mori, E., Nguyen, H. D., Marechal, A., Hallet, A., Chen, D. J., Zou, L. Tags: Research Papers Source Type: research

Comparative analgesic and sedative effects of tramadol, tramadol‐lidocaine and lidocaine for caudal epidural analgesia in donkeys (Equus asinus)
Conclusions and clinical relevanceEpidural combination of TRLD produced an anti‐nociceptive effect in the perineum, which was rapid in onset and had a longer duration of action than LD alone. An epidural single dose of TRLD combination would appear to provide an acceptable analgesic effect in the perineal region of donkeys. (Source: Veterinary Anaesthesia and Analgesia)
Source: Veterinary Anaesthesia and Analgesia - July 2, 2014 Category: Veterinary Research Authors: Mohamed A Marzok, Sabry A El‐khodery Tags: Short Communication Source Type: research

Severe radiotoxicity in an allogeneic transplant recipient with a heterozygous ATM mutation
Abstract Patients receiving radiotherapy often experience toxicity of the skin and mucous membranes. While radiotherapy is a mainstay of myeloablative conditioning for allogeneic hematopoietic stem cell transplantation (ASCT), no risk factors for radiotoxicity have been identified in this setting. Here, we report on a patient with excessive radiation‐induced toxicity after ASCT who carried a heterozygous mutation in the Ataxia telangiectasia mutated (ATM) gene. This is the first case to suggest a genetic basis for increased radiotoxicity after myeloablative ASCT. (Source: European Journal of Haematology)
Source: European Journal of Haematology - July 2, 2014 Category: Hematology Authors: Benjamin N. Ostendorf, Theis H. Terwey, Philipp G. Hemmati, Dirk Böhmer, Uwe Pleyer, Renate Arnold Tags: Case Report Source Type: research

Characteristic RNA foci of the abnormal hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type 36 (Asidan)
ConclusionsThe present study is the first report to show neuronal cytoplasmic inclusion bodies and giant RNA foci in an Asidan patient. The relationships between the giant RNA foci and neurodegeneration have yet to be studied. (Source: European Journal of Neurology)
Source: European Journal of Neurology - July 2, 2014 Category: Neurology Authors: W. Liu, Y. Ikeda, N. Hishikawa, T. Yamashita, K. Deguchi, K. Abe Tags: Original Article Source Type: research

Sodium-potassium ATPase emerges as a player in hippocampal phenotypes of Angelman syndrome mice
Angelman syndrome is a neurodevelopmental disorder characterized by intellectual disabilities, ataxia, and unusually happy affect. The hippocampal pyramidal cells of Angelman syndrome model mice have altered intrinsic membrane properties, which Kaphzan et al. (Cell Rep 4: 405–412, 2013) demonstrate can be corrected by genetic reduction of the α1-subunit of the sodium-potassium ATPase. Intriguingly, this manipulation also restores hippocampal long-term potentiation and learning. In this Neuro Forum, we discuss translational implications of this work and remaining questions left in its wake. (Source: Journal of Neurophysiology)
Source: Journal of Neurophysiology - July 1, 2014 Category: Neurology Authors: Hallengren, J. J., Vaden, R. J. Tags: Neuro Forum Source Type: research

Late‐onset cerebellar abiotrophy in a Labrador Retriever
ConclusionThe clinical history and clinicopathological data are consistent with late‐onset cerebellar abiotrophy, which has not previously been described in this breed. (Source: Australian Veterinary Journal)
Source: Australian Veterinary Journal - July 1, 2014 Category: Veterinary Research Authors: A Bertalan, EN Glass, M Kent, A De LaHunta, C Bradley Tags: CASE REPORT Source Type: research

Co-Existence of Familial Mediterranean Fever and Multiple Sclerosis in Two Patients.
Abstract Two female patients, aged 23 and 25 years-old diagnosed with Familial Mediterranean fever (FMF) were presented with ataxia and headache. Multiple sclerosis plaques were detected in their spinal and cranial MRI and diagnosis of multiple sclerosis was established. Genetic analysis demonstrated M694 V mutation (one homozygous and the other heterozygous) in both of the patients. Although it is quite rare, coexistence of familial Mediterranean fever and multiple sclerosis should be kept in the mind. PMID: 25005448 [PubMed - as supplied by publisher] (Source: Acta Reumatologica Portuguesa)
Source: Acta Reumatologica Portuguesa - July 1, 2014 Category: Rheumatology Authors: Ceylan G, Erten S, Ercan K Tags: Acta Reumatol Port Source Type: research

A Novel Synthetic Compound 3-Amino-3-(4-Fluoro-Phenyl)-1H-Quinoline-2,4-Dione (KR22332) Exerts a Radioprotective Effect via the Inhibition of Mitochondrial Dysfunction and Generation of Reactive Oxygen Species.
CONCLUSION: KR22332 significantly inhibited radiation-induced apoptosis in human keratinocytes in vitro, indicating that it might be a safe and effective treatment for the prevention of radiation-induced mucositis. PMID: 24954315 [PubMed - in process] (Source: Yonsei Medical Journal)
Source: Yonsei Medical Journal - June 28, 2014 Category: Universities & Medical Training Authors: Baek SJ, Chang JW, Park KH, Yang GY, Hwang HS, Koh YW, Jung YS, Kim CH Tags: Yonsei Med J Source Type: research

Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation.
We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. Brain magnetic resonance imaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum. With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to conside...
Source: Yonsei Medical Journal - June 28, 2014 Category: Universities & Medical Training Authors: Kang JW, Lee SM, Koo KY, Lee YM, Nam HS, Quan Z, Kang HC Tags: Yonsei Med J Source Type: research

Molecular Profiling of Appendiceal Epithelial Tumors Using Massively Parallel Sequencing to Identify Somatic Mutations [Cancer Diagnostics]
CONCLUSIONS: Our results suggest molecular heterogeneity among epithelial tumors of the appendix. Next generation sequencing efforts have identified mutational spectra in several subtypes of these tumors that may suggest a phenotypic heterogeneity showing mutations that are relevant for targeted therapies. (Source: Clinical Chemistry)
Source: Clinical Chemistry - June 27, 2014 Category: Chemistry Authors: Liu, X., Mody, K., de Abreu, F. B., Pipas, J. M., Peterson, J. D., Gallagher, T. L., Suriawinata, A. A., Ripple, G. H., Hourdequin, K. C., Smith, K. D., Barth, R. J., Colacchio, T. A., Tsapakos, M. J., Zaki, B. I., Gardner, T. B., Gordon, S. R., Amos, C. Tags: Cancer Diagnostics (since 2002) Source Type: research

Reversible brainstem dysfunction from spinal arterio-venous fistula.
Abstract A 45-year-old man presented with subacute onset of ataxia, diplopia, urinary retention and paraparesis. MR scan of brain showed abnormal T2 hyperintense signal within the cervical cord, medulla and lower pons and vascular appearances suggesting an arterio-venous fistula. The fistula was surgically explored and successfully disconnected with good clinical outcome. Brainstem or cervical dural arterio-venous fistulae more typically present as a myelopathy; only a handful of cases have presented with brainstem dysfunction. This is a rare but reversible cause of subacute brainstem dysfunction. PMID: 2496958...
Source: Practical Neurology - June 26, 2014 Category: Neurology Authors: Willis MD, Amato-Watkins T, Zaben M, Baig A, Corkill R, Joshi Y Tags: Pract Neurol Source Type: research

Oligosaccharide G19 inhibits U-87 MG human glioma cells growth in vitro and in vivo by targeting epidermal growth factor (EGF) and activating p53/p21 signaling
G19 is a novel homogeneous sulfated oligosaccharide, prepared from Grateloupia filicina. In the present study, we first reported that oligosaccharide G19 exhibited a dose- and time-dependent anti-proliferation effect against U-87 malignant gliomas (MG) human glioma cells. Further studies indicated that G19 strongly bound to epidermal growth factor (EGF), suppressed EGF receptor phosphorylation and interrupted the phosphatidylinositol-3 kinase/Akt pathway in the cancer cells. Moreover, G19 elevated intracellular reactive oxygen species levels and caused endogenous DNA damage. These actions were associated with activation of...
Source: Glycobiology - June 25, 2014 Category: Biology Authors: Liu, H., Zhou, L., Shi, S., Wang, Y., Ni, X., Xiao, F., Wang, S., Li, P., Ding, K. Tags: ORIGINAL ARTICLES Source Type: research

“Wired,” Yet Intoxicated: Modeling Binge Caffeine and Alcohol Co‐Consumption in the Mouse
ConclusionsTaken together, our mouse model indicates that binge co‐consumption of caffeine and alcohol produces a stimulated, less ataxic and anxious, as well as cognitively altered state; a state that could be of great public health concern. These results appear to resemble the colloquially identified “wide awake drunk” state that individuals seek via consumption of such beverages. This self‐administration model therefore offers the capacity for translationally valid explorations of the neurobiological consequences of binge co‐consumption to assess the public health risk of this drug combination. (Source: Alcoho...
Source: Alcoholism: Clinical and Experimental Research - June 24, 2014 Category: Addiction Authors: Brandon M. Fritz, Michel Companion, Stephen L. Boehm Tags: Original Article Source Type: research

"Wired," Yet Intoxicated: Modeling Binge Caffeine and Alcohol Co-Consumption in the Mouse.
CONCLUSIONS: Taken together, our mouse model indicates that binge co-consumption of caffeine and alcohol produces a stimulated, less ataxic and anxious, as well as cognitively altered state; a state that could be of great public health concern. These results appear to resemble the colloquially identified "wide awake drunk" state that individuals seek via consumption of such beverages. This self-administration model therefore offers the capacity for translationally valid explorations of the neurobiological consequences of binge co-consumption to assess the public health risk of this drug combination. PMID: 24961658 [Pub...
Source: Alcoholism, Clinical and Experimental Research - June 24, 2014 Category: Addiction Authors: Fritz BM, Companion M, Boehm SL Tags: Alcohol Clin Exp Res Source Type: research

Eat More Gluten: The Diet Fad Must Die
If you’ve got a hankering to make some money, now might be a good time to trademark a brand name for gluten-free salt. If they’re all taken, try gluten-free sugar or gluten-free water. And if they’re gone too, well, there’s still gluten-free shoes. MoreWhy Organic is the Right Choice for ParentsKraft Recalls Velveeta Cheese Because It Doesn’t Have Enough PreservativesBloody Rampage: Where Will Iraq's Militants Strike Next? NBC NewsJeremy Meeks, 'Hot Convict,' Used To Look Pretty Different Huffington PostHappy Marsiversary! Curiosity Rover Snaps Selfie NBC NewsWhat’s that? None of those t...
Source: TIME: Top Science and Health Stories - June 23, 2014 Category: Science Authors: Jeffrey Kluger Tags: Uncategorized barley behavior celiac disease fads Food Gluten gluten ataxia gluten free gluten sensitivity gluten-sensitive Nutrition rye wheat Source Type: news

Gene critical for development of brain motor center found
A research team describes a gene called Snf2h, which is found in our brain's neural stem cells and functions as a master regulator. When they removed this gene early on in a mouse's development, its cerebellum only grew to one-third the normal size. It also had difficulty walking, balancing and coordinating its movements, something called cerebellar ataxia that is a component of many neurodegenerative diseases. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - June 22, 2014 Category: Science Source Type: news

Researchers find gene critical for development of brain motor center
(Ottawa Hospital Research Institute) In Nature Communications, an Ottawa-led team describes a gene called Snf2h, which is found in our brain's neural stem cells and functions as a master regulator. When they removed this gene early on in a mouse's development, its cerebellum only grew to one-third the normal size. It also had difficulty walking, balancing and coordinating its movements, something called cerebellar ataxia that is a component of many neurodegenerative diseases. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 20, 2014 Category: Global & Universal Source Type: news

Cell and Gene Therapy for Friedreich Ataxia: Progress to Date
Human Gene Therapy , Vol. 0, No. 0. (Source: Human Gene Therapy)
Source: Human Gene Therapy - June 20, 2014 Category: Genetics & Stem Cells Tags: article Source Type: research

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing of 11 patients with the disease revealed that they all had the same de novo mutation in TUBB4A, which encodes tubulin β-4A. We investigated the mutation spectrum in a cohort of 42 patients and the relationship between genotype and phenotype. Patients were selected on the basis of clinical and magnetic resonance imaging abnormalities that are indicative of hypomyelination with atrophy of the basal ganglia and cerebellum. Genetic test...
Source: Brain - June 20, 2014 Category: Neurology Authors: Hamilton, E. M., Polder, E., Vanderver, A., Naidu, S., Schiffmann, R., Fisher, K., Raguž, A. B., Blumkin, L., H-ABC Research Group, van Berkel, C. G. M., Waisfisz, Q., Simons, C., Taft, R. J., Abbink, T. E. M., Wolf, N. I., van der Knaap, M. S. Tags: Original Articles Source Type: research

Predicting and correcting ataxia using a model of cerebellar function
Cerebellar damage results in uncoordinated, variable and dysmetric movements known as ataxia. Here we show that we can reliably model single-joint reaching trajectories of patients (n = 10), reproduce patient-like deficits in the behaviour of controls (n = 11), and apply patient-specific compensations that improve reaching accuracy (P < 0.02). Our approach was motivated by the theory that the cerebellum is essential for updating and/or storing an internal dynamic model that relates motor commands to changes in body state (e.g. arm position and velocity). We hypothesized that cerebellar damage causes a mismatch between t...
Source: Brain - June 20, 2014 Category: Neurology Authors: Bhanpuri, N. H., Okamura, A. M., Bastian, A. J. Tags: Original Articles Source Type: research

The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders
Angelman syndrome is a monogenic neurologic disorder that affects 1 in 15,000 children, and is characterized by ataxia, intellectual disability, speech impairment, sleep disorders, and seizures. The disorder is caused by loss of central nervous system expression of UBE3A, a gene encoding a ubiquitin ligase. Current treatments focus on the management of symptoms, as there have not been therapies to treat the underlying molecular cause of the disease. However, this outlook is evolving with advances in molecular therapies, including artificial transcription factors a class of engineered DNA-binding proteins that have the pote...
Source: Epidemiologic Perspectives and Innovations - June 19, 2014 Category: Epidemiology Authors: Barbara J BailusDavid J Segal Source Type: research

Oligonucleotide-based strategies to combat polyglutamine diseases
We present studies testing non-allele-selective and allele-selective gene silencing strategies. The latter include targeting SNP variants associated with mutations or targeting the pathologically expanded CAG repeat directly. We compare gene silencing effectors of various types in a number of aspects, including their design, efficiency in cell culture experiments and pre-clinical testing. We discuss advantages, current limitations and perspectives of various ON-based strategies used to treat polyQ diseases. (Source: Nucleic Acids Research)
Source: Nucleic Acids Research - June 19, 2014 Category: Research Authors: Fiszer, A., Krzyzosiak, W. J. Tags: Survey and Summary Source Type: research

Line-bisectioning and obstacle avoidance: Evidence for separate strategies.
Abstract Previous studies have frequently applied a combination of line-bisection tasks (in which participants indicate the middle of a line) and obstacle avoidance tasks (in which participants move their hand between two obstacles) with the aim of revealing perception-action dissociations in certain neurological disorders, such as visual form agnosia and optic ataxia. However, valid conclusions about the underlying processing pathways can only be drawn if participants apply the same strategy in both tasks (i.e. finding the middle between the obstacles). Yet, this assumption has never been tested directly. In this ...
Source: Acta Psychologica - June 18, 2014 Category: Psychiatry & Psychology Authors: Ross AI, Schenk T, Hesse C Tags: Acta Psychol (Amst) Source Type: research

Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia
(Source: Brain and Development)
Source: Brain and Development - June 18, 2014 Category: Neurology Authors: Tojo Nakayama, Yuko Sato, Mitsugu Uematsu, Masatoshi Takagi, Setsuko Hasegawa, Satoko Kumada, Atsuo Kikuchi, Naomi Hino-Fukuyo, Yoji Sasahara, Kazuhiro Haginoya, Shigeo Kure Source Type: research

The impact of rollator loading on gait and fall risk in neurorehabilitation - a pilot study.
Conclusion: On the basis of our findings, weighting of rollators can neither be discouraged nor recommended. Implications for Rehabilitation Unless more research is has been conducted on this topic, rollator loading can neither be recommended nor discouraged in individuals suffering from neurologic diseases. There is more research needed to examine the impact on ambulation in distinct conditions such as severe ataxia and fear of falling. PMID: 24936570 [PubMed - as supplied by publisher] (Source: Disability and Rehabilitation. Assistive Technology.)
Source: Disability and Rehabilitation. Assistive Technology. - June 17, 2014 Category: Rehabilitation Authors: Braun T, Marks D, Zutter D, Grüneberg C Tags: Disabil Rehabil Assist Technol Source Type: research

Clinical Reasoning: A 55-year-old man with weight loss, ataxia, and foot drop
A 55-year-old man with prior alcohol abuse and an 80 pack-year smoking history was referred for evaluation of a 3-month history of subacute-onset, progressively worsening imbalance without back pain. He began using a cane to ambulate after multiple falls. He also described recent right foot weakness, numbness in his feet and fingertips, and unintentional 25-pound weight loss over the past year. His medical history was significant for hypertension, gastroesophageal reflux disease, diverticulitis, and pelvic abscesses. A paternal grandfather had lung cancer. He reported a remote history of IV drug use. General examination re...
Source: Neurology - June 16, 2014 Category: Neurology Authors: Flanagan, E. P., Leep Hunderfund, A. N., Kumar, N., Murray, J. A., Krecke, K. N., Katz, B. S., Pittock, S. J. Tags: RESIDENT AND FELLOW SECTION Source Type: research