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This page shows you the latest news and research items in this category.

Progressive subacute Miller-Fisher syndrome successfully treated with plasmapheresis.
CONCLUSIONS: The presented case was atypical in its clinical course and treatment. It could support the theory of the continuity between MFS, Bickerstaff brainstem encephalitis (BBE), and Guillain-Barré syndrome (GBS). PMID: 25890931 [PubMed - in process] (Source: Neurologia i Neurochirurgia Polska)
Source: Neurologia i Neurochirurgia Polska - April 25, 2015 Category: Neurology Authors: Ejma M, Waliszewska-Prosół M, Hofman A, Budrewicz S, Podemski R, Bilińska M, Koszewicz M Tags: Neurol Neurochir Pol Source Type: research

Novel candidate blood‐based transcriptional biomarkers of Machado‐Joseph disease
Abstract Machado‐Joseph disease (or spinocerebellar ataxia type 3) is a late‐onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin‐3. Previous studies on cell and animal models have suggested that mutated ataxin‐3 is involved in transcriptional dysregulation. Starting with a whole‐transcriptome profiling of peripheral blood samples from patients and controls, we aimed to confirm abnormal expression profiles in Machado‐Joseph disease and to identify promising up‐regulated genes as potential candidate biomarkers of dise...
Source: Movement Disorders - April 25, 2015 Category: Neurology Authors: Mafalda Raposo, Conceição Bettencourt, Patrícia Maciel, Fuying Gao, Amanda Ramos, Nadiya Kazachkova, João Vasconcelos, Teresa Kay, Ana João Rodrigues, Bruno Bettencourt, Jácome Bruges‐Armas, Daniel Geschwind, Giovanni Coppola, Manuela Lima Tags: Research Article Source Type: research

MicroRNAs Promote Granule Cell Expansion in the Cerebellum Through Gli2.
Abstract MicroRNAs (miRNAs) are important regulators of cerebellar function and homeostasis. Their deregulation results in cerebellar neuronal degeneration and spinocerebellar ataxia type 1 and contributes to medulloblastoma. Canonical miRNA processing involves Dicer, which cleaves precursor miRNAs into mature double-stranded RNA duplexes. In order to address the role of miRNAs in cerebellar granule cell precursor development, loxP-flanked exons of Dicer1 were conditionally inactivated using the granule cell precursor-specific Atoh1-Cre recombinase. A reduction of 87 % in Dicer1 transcript was achieved in this con...
Source: Cerebellum - April 25, 2015 Category: Neuroscience Authors: Constantin L, Wainwright BJ Tags: Cerebellum Source Type: research

Epidemiology of Multiple System Atrophy in Hokkaido, the Northernmost Island of Japan.
Abstract Multiple system atrophy (MSA) is an intractable neurodegenerative disorder that is characterized by various combinations of autonomic failure, cerebellar ataxia, and parkinsonism. We conducted an epidemiological study of MSA using the combined data of a national registry system and a postal survey in Hokkaido, Japan. A postal survey was conducted in 2013 based on national registry data from 2006 to 2011. This survey contained the current status of each patient with MSA that had been collected from attending physicians and recorded into a national registry. Survey items included date, outcomes, primary symp...
Source: Cerebellum - April 25, 2015 Category: Neuroscience Authors: Sakushima K, Nishimoto N, Nojima M, Matsushima M, Yabe I, Sato N, Mori M, Sasaki H Tags: Cerebellum Source Type: research

Minor trauma causing stroke in a young athlete - Gupta V, Dhawan N, Bahl J.
A 17-year-old Caucasian male presented with sudden dizziness, ataxia, vertigo, and clumsiness lasting for a couple of hours. He had a subtle trauma during a wrestling match 2 days prior to the presentation. A CT Angiogram (CTA) and MRI showed left vertebra... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - April 24, 2015 Category: Global & Universal Tags: Age: Adolescents Source Type: news

MicroRNAs Promote Granule Cell Expansion in the Cerebellum Through Gli2
Abstract MicroRNAs (miRNAs) are important regulators of cerebellar function and homeostasis. Their deregulation results in cerebellar neuronal degeneration and spinocerebellar ataxia type 1 and contributes to medulloblastoma. Canonical miRNA processing involves Dicer, which cleaves precursor miRNAs into mature double-stranded RNA duplexes. In order to address the role of miRNAs in cerebellar granule cell precursor development, loxP-flanked exons of Dicer1 were conditionally inactivated using the granule cell precursor-specific Atoh1-Cre recombinase. A reduction of 87 % in Dicer1 transcript was achieved in this co...
Source: The Cerebellum - April 24, 2015 Category: Neurology Source Type: research

Epidemiology of Multiple System Atrophy in Hokkaido, the Northernmost Island of Japan
Abstract Multiple system atrophy (MSA) is an intractable neurodegenerative disorder that is characterized by various combinations of autonomic failure, cerebellar ataxia, and parkinsonism. We conducted an epidemiological study of MSA using the combined data of a national registry system and a postal survey in Hokkaido, Japan. A postal survey was conducted in 2013 based on national registry data from 2006 to 2011. This survey contained the current status of each patient with MSA that had been collected from attending physicians and recorded into a national registry. Survey items included date, outcomes, primary sym...
Source: The Cerebellum - April 24, 2015 Category: Neurology Source Type: research

Gene editing technique could prevent inherited diseases
ConclusionThis early research has developed a new technique to reduce the amount of mutation-carrying DNA within mitochondria. The hope is that this technique might be used in the eggs of women carrying disease-causing mitochondrial mutations.The government has recently given the go ahead for a technique that allows a woman who carries such a disease from passing it on to her child – making the UK the first country to do so. This technique has raised some ethical and safety concerns, as it places the woman’s chromosomes into a donor egg with healthy mitochondria. This means that once this egg is fertilised it contains...
Source: NHS News Feed - April 24, 2015 Category: Consumer Health News Tags: Genetics/stem cells Pregnancy/child Source Type: news

Genetics: Slowing premature ageing
Nature Reviews Cancer 15, 259 (2015). doi:10.1038/nrc3956 Author: M. Teresa Villanueva Mice with alterations in ataxia telangiectasia and Rad3-related (ATR) kinase age prematurely. López-Contreras et al. have shown that mice carrying extra alleles of the regulatory subunit of the ribonucleotide reductase complex (RRM2TG) have increased levels of nucleotides and reduced chromosomal breakage at fragile sites. (Source: Nature Reviews Cancer)
Source: Nature Reviews Cancer - April 24, 2015 Category: Cancer & Oncology Authors: M. Teresa Villanueva Tags: Research Highlight Source Type: research

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5
Publication date: Available online 23 April 2015 Source:Molecular Genetics and Metabolism Author(s): D. Gilliam , A. Kolicheski , G.S. Johnson , T. Mhlanga-Mutangadura , J.F. Taylor , Schnabel , M.L. Katz We studied a recessive, progressive neurodegenerative disease occuring in Golden Retriever siblings with an onset of signs at 15 months of age. As the disease progressed these signs included ataxia, anxiety, pacing and circling, tremors, aggression, visual impairment and localized and generalized seizures. A whole genome sequence, generated with DNA from one affected dog, contained a plausibly causal homozygous mutation...
Source: Molecular Genetics and Metabolism - April 24, 2015 Category: Genetics & Stem Cells Source Type: research

1,3-Dinitrobenzene Induces Age- and Region-Specific Oxidation to Mitochondria-Related Proteins in Brain
This study investigates the role of age in the regional susceptibility of brain mitochondria-related proteins (MRPs) to oxidation following exposure to DNB. Male F344 rats (1 month old [young], 3 months old [adult], 18 months old [aged]) were exposed to 10 mg/kg DNB prior to mitochondrial isolation and histopathology experiments. Using a high-throughput proteomic approach, 3 important region- and age-related increases in DNB-induced MRP oxidation were determined: (1) brainstem mitochondria are x3 more sensitive to DNB-induced oxidation than cortical mitochondria; (2) oxidation of brainstem MRPs is significantly higher than...
Source: Toxicological Sciences - April 24, 2015 Category: Toxicology Authors: Kubik, L. L., Landis, R. W., Remmer, H., Bergin, I. L., Philbert, M. A. Tags: Protein Oxidation in Mitochondria by 1,3-Dinitrobenzene Source Type: research

Aberrant TCR{delta} rearrangement underlies the T-cell lymphocytopenia and t(12;14) translocation associated with ATM deficiency
Ataxia telangiectasia mutated (ATM) is a protein kinase and a master regulator of DNA-damage responses. Germline ATM inactivation causes ataxia-telangiectasia (A-T) syndrome with severe lymphocytopenia and greatly increased risk for T-cell lymphomas/leukemia. Both A-T and T-cell prolymphoblastic leukemia patients with somatic mutations of ATM frequently carry inv(14;14) between the T-cell receptor α/ (TCRα/) and immunoglobulin H loci, but the molecular origin of this translocation remains elusive. ATM–/– mice recapitulate lymphocytopenia of A-T patients and routinely succumb to thymic lymphomas with...
Source: Blood - April 23, 2015 Category: Hematology Authors: Jiang, W., Lee, B. J., Li, C., Dubois, R. L., Gostissa, M., Alt, F. W., Zha, S. Tags: Pediatric Hematology, Immunobiology, Brief Reports Source Type: research

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia
Spinocerebellar ataxia type 3, spinocerebellar ataxia type 6 and Friedreich’s ataxia are common hereditary ataxias. Different patterns of atrophy of the cerebellar cortex are well known. Data on cerebellar nuclei are sparse. Whereas cerebellar nuclei have long been thought to be preserved in spinocerebellar ataxia type 6, histology shows marked atrophy of the nuclei in Friedreich’s ataxia and spinocerebellar ataxia type 3. In the present study susceptibility weighted imaging was used to assess atrophy of the cerebellar nuclei in patients with spinocerebellar ataxia type 6 (n = 12, age range 41–76 years, f...
Source: Brain - April 23, 2015 Category: Neurology Authors: Stefanescu, M. R., Dohnalek, M., Maderwald, S., Thurling, M., Minnerop, M., Beck, A., Schlamann, M., Diedrichsen, J., Ladd, M. E., Timmann, D. Tags: Original Articles Source Type: research

Fatigue is frequent and severe in Spinocerebellar Ataxia Type 1
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by a CAG repeat expansion within the coding region of the ATXN1 gene localized at 6p22-p23. The disease is characterized by progressive cerebellar ataxia, dysarthria and dysphagia. Non-motor symptoms have been described in several neurodegenerative diseases but a systematic evaluation of this clinical feature is lacking in SCA1. In particular, there are no data about fatigue in the disease. Therefore, the objective of this study is to evaluate its frequency and severity in SCA1. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 23, 2015 Category: Neurology Authors: Carlos R. M, Alberto R.M. Martinez, Anelyssa D’Abreu, Iscia Lopes-Cendes, Marcondes C. F Tags: Letter to the Editor Source Type: research

Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich’s Ataxia: an observational study
Conclusions: Our results suggest that outcome measures obtained by means of robotic devices can improve the sensitivity of clinical evaluations of patients’ dexterity and can accurately and efficiently quantify changes over time in clinical trials, particularly when functional scales appear to be no longer sensitive. (Source: Journal of NeuroEngineering and Rehabilitation)
Source: Journal of NeuroEngineering and Rehabilitation - April 23, 2015 Category: Rehabilitation Authors: Marco GermanottaGessica VascoMaurizio PetrarcaStefano RossiSacha CarnielEnrico BertiniPaolo CappaEnrico Castelli Source Type: research

Pharmacotherapy of vestibular and cerebellar disorders and downbeat nystagmus: translational and back‐translational research
There are currently eight groups of drugs for the pharmacotherapy of vertigo, nystagmus, and cerebellar disorders: antiemetics; anti‐inflammatories, antimenieres, and antimigraineous medications; antidepressants, anticonvulsants, aminopyridines, and acetyl‐dl‐leucine (“the eight A's”). In acute unilateral vestibulopathy, corticosteroids improve the recovery of peripheral vestibular function, but there is not sufficient current evidence for a general recommendation. There is also insufficient evidence that 48 or 144 mg/day betahistine has an effect in Ménière's disease. Therefore, higher dosages are currently re...
Source: Annals of the New York Academy of Sciences - April 22, 2015 Category: Science Authors: Michael Strupp, Andreas Zwergal, Katharina Feil, Tatiana Bremova, Thomas Brandt Tags: Original Article Source Type: research

Ataxin-2 Regulates RGS8 Translation in a New BAC-SCA2 Transgenic Mouse Model
by Warunee Dansithong, Sharan Paul, Karla P. Figueroa, Marc D. Rinehart, Shaina Wiest, Lance T. Pflieger, Daniel R. Scoles, Stefan M. Pulst Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder with progressive degeneration of cerebellar Purkinje cells (PCs) and other neurons caused by expansion of a glutamine (Q) tract in the ATXN2 protein. We generated BAC transgenic lines in which the full-length human ATXN2 gene was transcribed using its endogenous regulatory machinery. Mice with the ATXN2 BAC transgene with an expanded CAG repeat (BAC-Q72) developed a progressive cellular and motor phenotype, whereas...
Source: PLoS Genetics - April 22, 2015 Category: Genetics & Stem Cells Authors: Warunee Dansithong et al. Source Type: research

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development
NSDHL is a 3β-hydroxysterol dehydrogenase that is involved in the removal of two C-4 methyl groups in one of the later steps of cholesterol biosynthesis. Mutations in the gene encoding the enzyme are responsible for the X-linked, male lethal mouse mutations bare patches and striated, as well as most cases of human CHILD syndrome. Rare, hypomorphic NSDHL mutations are also associated with X-linked intellectual disability in males with CK syndrome. Since hemizygous male mice with Nsdhl mutations die by midgestation, we generated a conditional targeted Nsdhl mutation (Nsdhltm1.1Hrm) to investigate the essential role of c...
Source: Human Molecular Genetics - April 22, 2015 Category: Genetics & Stem Cells Authors: Cunningham, D., DeBarber, A. E., Bir, N., Binkley, L., Merkens, L. S., Steiner, R. D., Herman, G. E. Tags: ARTICLES Source Type: research

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1
Addition of the trinucleotide cytosine/cytosine/adenine (CCA) to the 3' end of transfer RNAs (tRNAs) is essential for translation and is catalyzed by the enzyme TRNT1 (tRNA nucleotidyl transferase), which functions in both the cytoplasm and mitochondria. Exome sequencing revealed TRNT1 mutations in two unrelated subjects with different clinical features. The first presented with acute lactic acidosis at 3 weeks of age and developed severe developmental delay, hypotonia, microcephaly, seizures, progressive cortical atrophy, neurosensorial deafness, sideroblastic anemia and renal Fanconi syndrome, dying at 21 months. The sec...
Source: Human Molecular Genetics - April 22, 2015 Category: Genetics & Stem Cells Authors: Sasarman, F., Thiffault, I., Weraarpachai, W., Salomon, S., Maftei, C., Gauthier, J., Ellazam, B., Webb, N., Antonicka, H., Janer, A., Brunel-Guitton, C., Elpeleg, O., Mitchell, G., Shoubridge, E. A. Tags: ARTICLES Source Type: research

Methadone use in a male with the FMRI premutation and FXTAS
The fragile X‐associated tremor ataxia syndrome (FXTAS) is caused by the premutation in FMR1 gene. Recent reports of environmental toxins appear to worsen the progression of FXTAS. Here we present a case of male adult with FXTAS and a long history of methadone use. The patient shows a faster progression in both symptoms of disease and MRI changes compared to what is typically seen in FXTAS. There has been no research regarding the role of narcotics in onset, progression, and severity of FXTAS symptoms. However, research has shown that narcotics can have a negative impact on several neurodegenerative diseases, and we hypo...
Source: American Journal of Medical Genetics Part A - April 21, 2015 Category: Genetics & Stem Cells Authors: Zukhrofi Muzar, Reymundo Lozano, Andrea Schneider, Patrick E. Adams, Sultana M.H. Faradz, Flora Tassone, Randi J. Hagerman Tags: Clinical Report Source Type: research

Hinokitiol suppressed pan-histone expression and cell growth in oral squamous cell carcinoma cells
Publication date: May 2015 Source:Journal of Functional Foods, Volume 15 Author(s): Yin-Hua Shih , Kuo-Wei Chang , Cheng-Chia Yu , Ming-Ching Kao , Michael Yuanchien Chen , Tong-Hong Wang , Tzu-Yun Chi , Yi-Ling Chen , Tzong-Ming Shieh Hinokitiol is reported to inhibit oral squamous cell carcinoma cells growth but its mechanism of action remains unclear. Hinokitiol induced cell cycle arrest in G1 or G1/S phase and induced cell apoptosis in oral squamous cell carcinoma cells. The cDNA microarray data showed 6.25–12.5 µM hinokitiol suppressed pan-histone mRNA expression and quantitative RT-PCR and western blotting sho...
Source: Journal of Functional Foods - April 20, 2015 Category: Nutrition Source Type: research

Neuronal Na+/K+ ATPase is an autoantibody target in paraneoplastic neurologic syndrome
Conclusions: We describe a case of an anti-ATP1A3–associated neurologic disorder. Mutations in the gene encoding this neuronal surface protein have already been recognized as the cause of infantile alternating hemiplegia, rapid-onset dystonia parkinsonism, and CAPOS syndrome. Although the autoantibodies are unlikely to be pathogenic, they are likely to be rare biomarkers for the apparently paraneoplastic neurologic syndrome or for the tumor itself. (Source: Neurology)
Source: Neurology - April 20, 2015 Category: Neurology Authors: Scharf, M., Miske, R., Heidenreich, F., Giess, R., Landwehr, P., Blocker, I.-M., Begemann, N., Denno, Y., Tiede, S., Dahnrich, C., Schlumberger, W., Unger, M., Teegen, B., Stocker, W., Probst, C., Komorowski, L. Tags: Autoimmune diseases, Gait disorders/ataxia, Spastic paraplegia, Paraneoplastic syndrome ARTICLE Source Type: research

Brain-derived neurotrophic factor: Regulation, effects, and potential clinical relevance
Brain-derived neurotrophic factor (BDNF) is the most ubiquitous and intensively studied member of the family of neurotrophins in the CNS. The transcriptional regulation of BDNF is complex and involves both epigenetic control and transcription factors. BDNF is produced "on demand" in response to neuronal activity from a precursor pro-BDNF that is transported and processed via the secretory pathway. The effects of mature BDNF are mediated by the tropomyosin-related kinase B (TrkB, tyrosine kinase B) receptor, which triggers phosphorylation cascades that promote protein synthesis, axonal growth, dendritic maturation, use-depe...
Source: Neurology - April 20, 2015 Category: Neurology Authors: Benarroch, E. E. Tags: CLINICAL IMPLICATIONS OF NEUROSCIENCE RESEARCH Source Type: research

SCA2 predictive testing in Cuba: challenging concepts and protocol evolution
Abstract Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN2 gene. Cuba has the highest prevalence (6.57 cases/105 inhabitants) of SCA2 in the world. The existence of 753 affected individuals and 7173 relatives at risk prompted the development in 2001 of the first predictive testing program in the country. The medical records of over 1193 individuals, who requested the test within a 13-year period, were analyzed retrospectively. The presymptomatic and the prenatal tests had uptake rates of 43.4 and 23.9 %, respectively. Several ethical challenges resul...
Source: Journal of Community Genetics - April 19, 2015 Category: Genetics & Stem Cells Source Type: research

hexanucleotide expansion analysis in Chinese patients with multiple system atrophy
Multiple system atrophy (MSA) is a rare neurodegenerative movement disorder, which is classified into two subtypes: MSA with predominant parkinsonism (MSA-P) and MSA with predominant cerebellar ataxia (MSA-C) [1]. The new discovery of the GGGGCC hexanucleotide repeat expansion in C9orf72 gene was responsible for a large proportion of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases [2]. Intriguingly, a patient clinically diagnosed as MSA was reported to carry a pathological expansion in C9orf72[3], which suggested that there may be an association between MSA and repeat expansions of C9orf72. (Sou...
Source: Parkinsonism and Related Disorders - April 18, 2015 Category: Neurology Authors: ZhanFang Sun, Hong Jiang, Bin Jiao, Xuan Hou, Lu Shen, Kun Xia, Beisha Tang Tags: Letter to the Editor Source Type: research

Sensorimotor processing for balance in spinocerebellar ataxia type 6
Abstract We investigated whether balance impairments caused by cerebellar disease are associated with specific sensorimotor processing deficits that generalize across all sensory modalities. Experiments focused on the putative cerebellar functions of scaling and coordinate transformation of balance responses evoked by stimulation of single sensory channels. Vestibular, visual, and proprioceptive sensory channels were stimulated in isolation using galvanic vestibular stimulation, moving visual scenery, and muscle vibration, respectively, in 16 subjects with spinocerebellar ataxia type 6 (SCA6) and 16 matched healthy control...
Source: Movement Disorders - April 16, 2015 Category: Neurology Authors: Lisa M. Bunn, Jonathan F. Marsden, Daniel C. Voyce, Paola Giunti, Brian L. Day Tags: Research Article Source Type: research

A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease
by Kaisa Kyöstilä, Pernilla Syrjä, Vidhya Jagannathan, Gayathri Chandrasekar, Tarja S. Jokinen, Eija H. Seppälä, Doreen Becker, Michaela Drögemüller, Elisabeth Dietschi, Cord Drögemüller, Johann Lang, Frank Steffen, Cecilia Rohdin, Karin H. Jäderlund, Anu K. Lappalainen, Kerstin Hahn, Peter Wohlsein, Wolfgang Baumgärtner, Diana Henke, Anna Oevermann, Juha Kere, Hannes Lohi, Tosso Leeb Inherited neurodegenerative disorders are debilitating diseases that occur across different species. We have performed clinical, pathological and genetic studies to characterize a novel canine neurodegenerative disease present in ...
Source: PLoS Genetics - April 15, 2015 Category: Genetics & Stem Cells Authors: Kaisa Kyöstilä et al. Source Type: research

Measuring Disease Progression in Giant Axonal Neuropathy: Implications for Clinical Trial Design
As part of a natural history study of giant axonal neuropathy, we hypothesized that the Friedreich Ataxia Rating Scale and the Gross Motor Function Measure would show a significant change over 6 months, reflecting subjects’ decline in motor function. The Friedreich Ataxia Rating Scale was performed on 11 subjects and the Gross Motor Function Measure was performed on 10 subjects twice with a six-month interval. A paired two-tailed t-test was used to assess the difference in each subject’s score. Significant changes were found over six months of 11.7 ± 11.0 (P = 0.006) for the Friedreich Ataxia Rating Scal...
Source: Journal of Child Neurology - April 15, 2015 Category: Neurology Authors: Roth, L. A., Marra, J. D., LaMarca, N. H., Sproule, D. M. Tags: Original Articles Source Type: research

High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression.
Abstract Spinocerebellar ataxia type 3(SCA3), also known as Machado-Joseph disease (MJD), is the most frequent subtype of autosomal dominant inherited spinocerebellar ataxias, which caused by the expansion of CAG repeats in the ATXN3 gene. The number of CAG repeats of the abnormal allele determines the rate of disease progression in patients with SCA3/MJD. Markers to assess the clinical severity, to predict the course of illness and to monitor the efficacy of therapeutic measures, can be clinical, biological, and radiological. Here, we aimed to explore whether the serum glial fibrillary acidic protein (GFAP) may ac...
Source: Cerebellum - April 14, 2015 Category: Neuroscience Authors: Shi Y, Wang C, Huang F, Chen Z, Sun Z, Wang J, Tang B, Ashizawa T, Klockgether T, Jiang H Tags: Cerebellum Source Type: research

ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
m LB, Rede Neurogenetica PMID: 25869926 [PubMed - as supplied by publisher] (Source: Cerebellum)
Source: Cerebellum - April 14, 2015 Category: Neuroscience Authors: Pereira FS, Monte TL, Locks-Coelho LD, Silva AS, Barsottini O, Pedroso JL, Cornejo-Olivas M, Mazzetti P, Godeiro C, Vargas FR, Lima MA, van der Linden H, Toralles MB, Medeiros PF, Ribeiro E, Braga-Neto P, Salarini D, Castilhos RM, Saraiva-Pereira ML, Jard Tags: Cerebellum Source Type: research

Familial Hemiplegic Migraine Type 1 Associated with Parkinsonism: A Case Report
We report a 63-year-old woman with FHM1 caused by an R583Q mutation in the CACNA1A gene, clinically presenting with migraine and permanent cerebellar ataxia. Since the age of 60 years, the patient also developed parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT) imaging with single-photon emission computed tomography demonstrated a decreased DAT-binding potential in the putamen. We wish to draw attention to...
Source: Case Reports in Neurology - April 13, 2015 Category: Neurology Source Type: research

High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression
Abstract Spinocerebellar ataxia type 3(SCA3), also known as Machado-Joseph disease (MJD), is the most frequent subtype of autosomal dominant inherited spinocerebellar ataxias, which caused by the expansion of CAG repeats in the ATXN3 gene. The number of CAG repeats of the abnormal allele determines the rate of disease progression in patients with SCA3/MJD. Markers to assess the clinical severity, to predict the course of illness and to monitor the efficacy of therapeutic measures, can be clinical, biological, and radiological. Here, we aimed to explore whether the serum glial fibrillary acidic protein (GFAP) may a...
Source: The Cerebellum - April 13, 2015 Category: Neurology Source Type: research

ATXN3 , ATXN7 , CACNA1A , and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America
(Source: The Cerebellum)
Source: The Cerebellum - April 13, 2015 Category: Neurology Source Type: research

Clinical Reasoning: Novel GLUT1-DS mutation: Refractory seizures and ataxia
Intractable epilepsy is a common diagnosis among child neurology practitioners with medical management remaining unsatisfactory in many cases. GLUT1 deficiency syndrome (GLUT1-DS) is a disorder that should be considered in such situations. Evaluation by comparing serum to CSF glucose levels is a fast and relatively easy test, with hypoglycorrhachia being highly suggestive of GLUT1-DS. Furthermore, treatment with the ketogenic diet is well-established and can result in significant improvement in quality of life for these patients. The following case report outlines the presentation of one such patient and highlights common ...
Source: Neurology - April 13, 2015 Category: Neurology Authors: Sen, S., Keough, K., Gibson, J. Tags: Metabolic disease (inherited), All Movement Disorders, All Pediatric, All Epilepsy/Seizures, Genetic linkage RESIDENT AND FELLOW SECTION Source Type: research

Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhauser syndrome due to PNPLA6 mutations
A 37-year-old woman presented with progressive visual loss and primary amenorrhoea due to hypogonadotropic hypogonadism since 14 years of age. These symptoms were followed by cerebellar ataxia and lower limb spasticity, leading to wheelchair dependency at the age of 30 years. At examination at the age of 37 years, her vision was reduced to perception of hand motion, thus meeting the criteria of legal blindness (defined as visual acuity <20/400). This progressive visual loss was caused by chorioretinal degeneration as demonstrated by fundoscopy and optical coherence tomography (figure 1). Whereas patellar ...
Source: Journal of Neurology, Neurosurgery and Psychiatry - April 13, 2015 Category: Neurosurgery Authors: Synofzik, M., Kernstock, C., Haack, T. B., Schols, L. Tags: Genetics, Brain stem / cerebellum, Neuromuscular disease, Peripheral nerve disease, Ophthalmology, Radiology, Radiology (diagnostics) Neurological pictures Source Type: research

Blood metal levels and related antioxidant enzyme activities in patients with Ataxia-Telengiectasia.
Abstract Transition metals are co-factors for a wide range of vital enzymes, and are directly or indirectly involved in the response against reactive oxygen species (ROS), which can damage cellular components. Their altered homeostasis has been studied in neurodegenerative disorders such as Alzheimer's disease (AD), Parkinson's disease (PD) and Amyotrophic Lateral Sclerosis (ALS), but no data are available on rarer conditions. We aimed at studying the role of essential trace elements in Ataxia-Telengiectasia (A-T), a rare form of paediatric autosomal recessive cerebellar ataxia with altered antioxidant response. We...
Source: Neurobiology of Disease - April 13, 2015 Category: Neurology Authors: Squadrone S, Brizio P, Mancini C, Pozzi E, Cavalieri S, Abete MC, Brusco A Tags: Neurobiol Dis Source Type: research

[Wernicke encephalopathy].
Abstract Wernicke encephalopathy is an acute neuropsychiatric disease with heterogeneous symptoms, including changes in mental status, ataxia and ocular abnormalities; if left untreated, these symptoms can lead to morbidity and even to mortality. The treatment is thiamine suppletion. Because of the heterogeneity of the symptoms and the high risk of morbidity and mortality if the symptoms are not treated, it is vitally important that on observing a patient's early symptoms the clinician immediately suspects that the symptoms could point to Wernicke encephalopathy. PMID: 25856744 [PubMed - in process] (Source: T...
Source: Tijdschrift voor Psychiatrie - April 12, 2015 Category: Psychiatry Authors: Djelantik M, Bloemkolk D, Tijdink J Tags: Tijdschr Psychiatr Source Type: research

Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together
(Source: Neurogenetics)
Source: Neurogenetics - April 12, 2015 Category: Genetics & Stem Cells Source Type: research

Failure to confirm benefit of acetyl- dl -leucine in degenerative cerebellar ataxia: a case series
(Source: Journal of Neurology)
Source: Journal of Neurology - April 11, 2015 Category: Neurology Source Type: research

Clinical, FDG and amyloid PET imaging in posterior cortical atrophy
Abstract The purpose of this study was to identify the clinical, [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET) and amyloid-PET findings in a large cohort of posterior cortical atrophy (PCA) patients, to examine the neural correlates of the classic features of PCA, and to better understand the features associated with early PCA. We prospectively recruited 25 patients who presented to the Mayo Clinic between March 2013 and August 2014 and met diagnostic criteria for PCA. All patients underwent a standardized set of tests and amyloid imaging with [11C] Pittsburg compound B (PiB). Seventeen (68 %) u...
Source: Journal of Neurology - April 11, 2015 Category: Neurology Source Type: research

Differential Diagnosis of Sporadic Adult-Onset Ataxia: The Role of REM Sleep Behavior Disorder
Sporadic adult-onset ataxia encompasses a group of degenerative, non-hereditary disorders, including idiopathic adult-onset ataxia and the cerebellar form of multiple system atrophy. Our objective was to analyze the diagnosis at follow-up of 50 sporadic adult-onset ataxia patients. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 11, 2015 Category: Neurology Authors: Hélio A.G. Teive, Walter O. Arruda, Adriana Moro, Mariana Moscovich, Renato P. Munhoz Source Type: research

Horizon Pharma's Friedreich's Ataxia Drug Gets Fast-Track Designation
Horizon Pharma PLC said Friday that its experimental Friedreich’s ataxia treatment has received fast-track designation from the U.S. Food and Drug Administration, a move that could speed approval. (Source: WSJ.com: Health)
Source: WSJ.com: Health - April 10, 2015 Category: Pharmaceuticals Tags: PAID Source Type: news

Horizon Pharma plc Receives FDA Fast Track Designation for ACTIMMUNE(R) in the Treatment of Friedreich's Ataxia
DUBLIN, IRELAND--(Healthcare Sales & Marketing Network) - Horizon Pharma plc (NASDAQ: HZNP), a specialty biopharmaceutical company focused on improving patients' lives by identifying, developing, acquiring and commercializing differentiated products that a... Biopharmaceuticals, Neurology, FDAHorizon Pharma, ACTIMMUNE, Friedreich's Ataxia (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - April 10, 2015 Category: Pharmaceuticals Source Type: news

PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature.
Authors: Nanetti L, Pensato V, Leoni V, Rizzetto M, Caccia C, Taroni F, Mariotti C, Gellera C PMID: 25851898 [PubMed] (Source: Journal of Clinical Neurology)
Source: Journal of Clinical Neurology - April 10, 2015 Category: Neurology Tags: J Clin Neurol Source Type: research

Seronegative Neuromyelitis Optica Spectrum Disorder following Exposure to Hepatitis B Vaccination
Controversy exists regarding a potential link between exposure to recombinant hepatitis B vaccine (HBV) and central nervous system demyelinating diseases. Here, we present a case of seronegative neuromyelitis optica spectrum disorder (NMOSD) following exposure to HBV. A 28-year-old man developed painful eye movements 11 days after exposure to HBV. Within 24 h, he experienced vision loss, ascending numbness, and ataxia. T-spine MRI showed a cord lesion spanning T6-T9. Brain MRI showed bilateral optic nerve contrast enhancement and a right-sided internal capsule lesion. Cerebrospinal fluid analysis was normal, including nega...
Source: Case Reports in Neurology - April 10, 2015 Category: Neurology Source Type: research

A unique radiological case of intrathecal methotrexate-induced toxic leukoencephalopathy
Methotrexate (MTX) is a necessary antimetabolite for the treatment of oncological disorders in all age groups. It was first introduced in 1948 for treatment of childhood lymphocytic leukemia [1]. Intrathecal methotrexate is used for prophylaxis and treatment of meningeal leukemia. Neurological adverse effects of methotrexate are not uncommon. Chronic leukoencephalopathy is the most serious neurotoxicity, particularly when it is administered intrathecally in combination with cranial radiation therapy, and is characterized by insidious evolution of dementia, pseudobulbar palsy or ataxia with widespread white matter changes. ...
Source: Journal of the Neurological Sciences - April 10, 2015 Category: Neurology Authors: Jiwon Yang, Gap Su Kim, Hyeon-Mi Park Source Type: research

Increased oxidative stress in AOA3 cells disturbs ATM-dependent DNA damage responses
Publication date: April 2015 Source:Mutation Research/Genetic Toxicology and Environmental Mutagenesis, Volume 782 Author(s): Junya Kobayashi , Yuichiro Saito , Michiyo Okui , Noriko Miwa , Kenshi Komatsu Ataxia telangiectasia (AT) is caused by a mutation in the ataxia-telangiectasia-mutated (ATM) gene; the condition is associated with hyper-radiosensitivity, abnormal cell-cycle checkpoints, and genomic instability. AT patients also show cerebellar ataxia, possibly due to reactive oxygen species (ROS) sensitivity in neural cells. The ATM protein is a key regulator of the DNA damage response. Recently, several AT-like dis...
Source: Mutation Research Genetic Toxicology and Environmental Mutagenesis - April 10, 2015 Category: Genetics & Stem Cells Source Type: research

Force dysmetria in spinocerebellar ataxia 6 correlates with functional capacity
Agostina Casamento Moran, Yen-Ting Chen, MinHyuk Kwon, Amy Snyder, S H Subramony, David Vaillancourt and Evangelos A Christou (Source: Frontiers in Human Neuroscience)
Source: Frontiers in Human Neuroscience - April 9, 2015 Category: Neuroscience Source Type: research

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia
Conclusions: These promising preliminary results call for a large-scale controlled study on protracted treatment of patients with AT with dexamethasone-loaded erythrocytes. (Source: Neurology Neuroimmunology and Neuroinflammation)
Source: Neurology Neuroimmunology and Neuroinflammation - April 9, 2015 Category: Neurology Authors: Leuzzi, V., Micheli, R., D'Agnano, D., Molinaro, A., Venturi, T., Plebani, A., Soresina, A., Marini, M., Ferremi Leali, P., Quinti, I., Pietrogrande, M. C., Finocchi, A., Fazzi, E., Chessa, L., Magnani, M. Tags: All Clinical trials, All Practice Management Article Source Type: research

Simultaneous serum aquaporin-4 antibody and CSF NMDA receptor antibody-positive encephalitis
A 29-year-old Hmong woman presented with 3 months of worsening imbalance and intermittent vertigo followed by right facial numbness, slurred/nonsensical speech, and memory impairment. She reported generalized weakness, fatigue, and anorexia with more than 10 kg weight loss. She denied paresthesia, vision loss, nausea, vomiting, or hiccups. Neurologic examination revealed impaired short-term memory, expressive aphasia, mild right appendicular ataxia, and profound abulia. (Source: Neurology Neuroimmunology and Neuroinflammation)
Source: Neurology Neuroimmunology and Neuroinflammation - April 9, 2015 Category: Neurology Authors: Orengo, J. P., Pekmezci, M., Cree, B. A. C. Tags: All Demyelinating disease (CNS), Devic's syndrome, Autoimmune diseases, Encephalitis Clinical/Scientific Notes Source Type: research