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Visual Scanning Area is Abnormally Enlarged in Hereditary Pure Cerebellar Ataxia
Abstract The aim of paper was to investigate abnormalities in visual scanning using an eye-tracking device with patients with spinocerebellar ataxia type 6 (SCA6) and SCA31, pure cerebellar types of spinocerebellar degeneration. Nineteen SCA patients (12 patients with SCA6 and 7 patients with SCA31) and 19 normal subjects in total participated in the study. While the subjects viewed images of varying complexity for later recall, we compared the visual scanning parameters between SCA patients and normal subjects. SCA patients had lower image recall scores. The scanned area in SCA patients was consistently larger t...
Source: The Cerebellum - March 3, 2015 Category: Neurology Source Type: research

PRES, the most uncommon side effect of one of the commonest chemotherapy regimen, FOLFOX
Conclusion Oncologists must be aware of this uncommon but specific adverse effect of FOLFOX chemotherapy, as prompt diagnosis may result in complete resolution of PRES. (Source: Apollo Medicine)
Source: Apollo Medicine - March 3, 2015 Category: Journals (General) Source Type: research

Human Ventricular Unloading Induces Cardiomyocyte Proliferation
ConclusionsProlonged mechanical unloading induces adult human cardiomyocyte proliferation, possibly through prevention of mitochondria-mediated activation of DDR. (Source: Journal of the American College of Cardiology)
Source: Journal of the American College of Cardiology - March 2, 2015 Category: Cardiology Source Type: research

Stemness factor Sall4 is required for DNA damage response in embryonic stem cells
Mouse embryonic stem cells (ESCs) are genetically more stable than somatic cells, thereby preventing the passage of genomic abnormalities to their derivatives including germ cells. The underlying mechanisms, however, remain largely unclear. In this paper, we show that the stemness factor Sall4 is required for activating the critical Ataxia Telangiectasia Mutated (ATM)–dependent cellular responses to DNA double-stranded breaks (DSBs) in mouse ESCs and confer their resistance to DSB-induced cytotoxicity. Sall4 is rapidly mobilized to the sites of DSBs after DNA damage. Furthermore, Sall4 interacts with Rad50 and stabil...
Source: Journal of Cell Biology - March 2, 2015 Category: Cytology Authors: Xiong, J., Todorova, D., Su, N.-Y., Kim, J., Lee, P.-J., Shen, Z., Briggs, S. P., Xu, Y. Tags: Reports Source Type: research

Unwinding the role of senataxin in neurodegeneration.
Authors: Bennett CL, La Spada AR Abstract Interest in senataxin biology began in 2004 when mutations were first identified in what was then a novel protein. Dominantly inherited mutations were documented in rare juvenile-onset, motor neuron disease pedigrees in a familial form of amyotrophic lateral sclerosis (ALS4), while recessive mutations were found to cause a severe early-onset ataxia with oculomotor apraxia (AOA2) that is actually the second most common recessive ataxia after Freidreich's ataxia. From earlier studies of sen1p, the yeast ortholog of senataxin, a range of important RNA processing functions have...
Source: Discovery Medicine - March 1, 2015 Category: Research Tags: Discov Med Source Type: research

Common variants at the 9q 22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in the Cuban population
Conclusions: We confirmed in the Cuban population the role of the loci previously associated with DTC susceptibility in European and Japanese populations through genome-wide association studies. Our results on ATM and the number of pregnancies raise interesting questions on the mechanisms by which oestrogens, or other hormones, alter the DNA damage response and DNA repair through the regulation of key effector proteins such as ATM. Due to the small size of our study and to multiple tests, all these results warrant further investigation. (Source: BioMed Central)
Source: BioMed Central - March 1, 2015 Category: Journals (General) Authors: Celia M PeredaFabienne LesueurMaroulio PertesiNivonirina RobinotJuan J Lence-AntaSilvia TurciosMilagros VelascoMae ChappeIdalmis InfanteMarlene BustilloAnabel GarcíaEnora CleroConstance XhaardYan RenStéphane MaillardFrancesca DamiolaCarole RubinoSirced Source Type: research

Complementation of aprataxin deficiency by base excision repair enzymes
Abortive ligation during base excision repair (BER) leads to blocked repair intermediates containing a 5'-adenylated-deoxyribose phosphate (5'-AMP-dRP) group. Aprataxin (APTX) is able to remove the AMP group allowing repair to proceed. Earlier results had indicated that purified DNA polymerase β (pol β) removes the entire 5'-AMP-dRP group through its lyase activity and flap endonuclease 1 (FEN1) excises the 5'-AMP-dRP group along with one or two nucleotides. Here, using cell extracts from APTX-deficient cell lines, human Ataxia with Oculomotor Apraxia Type 1 (AOA1) and DT40 chicken B cell, we found that pol &beta...
Source: Nucleic Acids Research - February 27, 2015 Category: Research Authors: Cağlayan, M., Horton, J. K., Prasad, R., Wilson, S. H. Tags: Nucleic Acid Enzymes Source Type: research

Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rate
Abstract Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) are neurodegenerative disorders, caused or modified by an unstable CAG-repeat expansion in the SCA2 gene, which encodes a polyglutamine (polyQ) domain expansion in ataxin-2 (ATXN2). ATXN2 is an RNA-binding protein and interacts with the poly(A)-binding protein PABPC1, localizing to ribosomes at the rough endoplasmic reticulum. Under cell stress, ATXN2, PABPC1 and small ribosomal subunits are relocated to stress granules, where mRNAs are protected from translation and from degradation. It is unknown whether ATXN2 associates prefer...
Source: Neurogenetics - February 26, 2015 Category: Genetics & Stem Cells Source Type: research

Clinical Evaluation of Eye Movements in Spinocerebellar Ataxias: A Prospective Multicenter Study
Conclusions: Prospective data from a large cohort of patients with SCAs 1, 2, 3, and 6 provide statistical validation that the SCAs exhibit distinct eye movement abnormalities that are useful in identifying the genotypes. Many of the abnormalities correlate with greater disease severity measures. (Source: Journal of Neuro-Ophthalmology)
Source: Journal of Neuro-Ophthalmology - February 26, 2015 Category: Opthalmology Tags: Original Contribution Source Type: research

Polyneuritis cranialis: oculopharyngeal subtype of Guillain-Barré syndrome
Abstract Guillain-Barré syndrome (GBS) constitutes a spectrum of related post-infectious neuropathies, which are characterized by their anatomical patterns of weakness and neurological involvement. Historically, the term polyneuritis cranialis has been used to describe some patients with GBS presenting with multiple cranial neuropathies in the absence of limb weakness. We examine previous reports of polyneuritis cranialis to determine disease characteristics and define new diagnostic criteria. Disease characteristics were determined from 15 historical case reports of patients presenting with isolated ‘polyneuri...
Source: Journal of Neurology - February 26, 2015 Category: Neurology Source Type: research

Mutations in Cause Recessive Ataxia with Oculomotor Apraxia Type 4
Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (AOA). The integration of data from these analyses led to the identification of the same homozygous PNKP (polynucleotide kinase 3′-phosphatase) mutation, c.1123G>T (p.Gly375Trp), in three of the studied families. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - February 26, 2015 Category: Genetics & Stem Cells Authors: Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreiro Tags: Report Source Type: research

Standardized test for anti-Tr/DNER in patients with paraneoplastic cerebellar degeneration
Conclusion: Anti-Tr antibodies bind to the extracellular domain of DNER and can be detected by RC-IFA using HEK293 cells expressing the recombinant receptor. The new method performs better than a frequently used commercial tissue-based indirect immunofluorescence assay (IFA) in samples with low-titer antibodies. Classification of evidence: This study provides Class II evidence that RC-IFA accurately detects anti-Tr as compared to conventional IFA. (Source: Neurology Neuroimmunology and Neuroinflammation)
Source: Neurology Neuroimmunology and Neuroinflammation - February 26, 2015 Category: Neurology Authors: Probst, C., Komorowski, L., de Graaff, E., van Coevorden-Hameete, M., Rogemond, V., Honnorat, J., Sabeter, L., Graus, F., Jarius, S., Voltz, R., Wildemann, B., Franciotta, D., Blocker, I. M., Schlumberger, W., Stocker, W., Sillevis Smitt, P. A. E. Tags: All Movement Disorders, Gait disorders/ataxia, Paraneoplastic syndrome Article Source Type: research

The effect of goals and vision on movements: A case study of optic ataxia and limb apraxia.
Abstract Normally we can perform a variety of goal-directed movements effortlessly. However, damage to the parietal cortex may dramatically reduce this ability, giving rise to optic ataxia and limb apraxia. Patients with optic ataxia show clear misreaches towards targets when presented in the peripheral visual field, whereas limb apraxia refers to the inability to use common tools or to imitate simple gestures. In the present paper we describe the case of a left-brain damaged patient, who presented both symptoms. We systematically investigated both spatial and temporal parameters of his movements, when asked to rea...
Source: Brain and Cognition - February 25, 2015 Category: Neurology Authors: Ambron E, Lingnau A, Lunardelli A, Pesavento V, Rumiati RI Tags: Brain Cogn Source Type: research

First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature
We report a 7-year-old girl who was born of a nonconsanguineous marriage presenting with mental retardation and delayed development. Physical examination revealed loss of speech, repetitive hand-wringing movement, short stature (120cm), strabismus, microcephaly, and autistic behavior. The diagnosis was confirmed by sequencing MECP2 gene with heterozygous mutation C385A in exon 2. The current study aimed to report the first case of Rett syndrome in the Azeri Turkish population. (Source: Epilepsy and Behavior Case Reports)
Source: Epilepsy and Behavior Case Reports - February 23, 2015 Category: Neurology Source Type: research

Teaching NeuroImages: Hypertrophic olivary degeneration in a young man with POLG gene mutation
A 30-year-old man with sensorineural hearing loss presented with subacute somnolence, slurred speech, and unsteady gait following treatment with peginterferon α-2b and ribavirin for chronic hepatitis C virus. Examination revealed scanning speech, horizontal nystagmus, gait ataxia, and symmetric hyporeflexia with distal sensory loss. There was no palatal myoclonus. Metabolic and serologic workup and blood lactate were unrevealing. Brain MRI demonstrated bilateral hypertrophic olivary degeneration (HOD, figure). Whole exome sequencing identified a homozygous pathogenic p.W748S POLG mutation.1 Differential diagnosis of ...
Source: Neurology - February 23, 2015 Category: Neurology Authors: Arkadir, D., Meiner, V., Karni, A., Lossos, A. Tags: MRI, All Clinical Neurology, Gait disorders/ataxia, All Genetics, Mitochondrial disorders RESIDENT AND FELLOW SECTION Source Type: research

To Treat or Not to Treat?: Pilot Survey for Minor and Rapidly Improving Stroke [Brief Reports]
Conclusions— This pilot survey provides the first quantitative evidence that National Institutes of Health Stroke Scale score is not the only determinant of treatment decision. A National Institutes of Health Stroke Scale score of 2 is the potential equipoise point, with the least consensus on treatment decision. These preliminary findings require validation in larger population surveys. (Source: Stroke)
Source: Stroke - February 23, 2015 Category: Neurology Authors: Balucani, C., Bianchi, R., Feldmann, E., Weedon, J., Kolychev, D., Levine, S. R. Tags: Thrombolysis Brief Reports Source Type: research

3-D trajectory of body sway angles: A technique for quantifying postural stability
In this study, ten patients with progressive cerebellar ataxia and eleven healthy subjects were measured and a statistical analysis was performed. The results yielded by new method show that the total trajectory lengths of patients with cerebellar disease are significantly larger than the total trajectory lengths of healthy subjects. It is evident from the median of the total trajectory lengths that the method based on the data obtained by an inexpensive orientation tracker may be used to quantify human postural stability and enables for studying body sway in 3-D space. For example, the 3-D deviations of the trunk angles i...
Source: Biocybernetics and Biomedical Engineering - February 21, 2015 Category: Biomedical Engineering Source Type: research

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322–324.
A GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene has been initially demonstrated to be a common cause of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) [1,2]. C9ORF72 repeat expansion has also been associated with parkinsonian syndrome, Huntington's disease-like syndrome and dementia syndrome. Several individuals presenting with cerebellar ataxia have also been reported to carry the C9ORF72 expansion mutation. In order to elucidate the relationship between the C9ORF72 mutation and cerebellar ataxia, Hsiao and colleagues screened a Chinese cohort of 429 patients with idiopathic late-onset cerebe...
Source: Journal of the Neurological Sciences - February 20, 2015 Category: Neurology Authors: Morgane Plutino, Annabelle Chaussenot, Samira Ait-El-Mkadem, Sylvie Bannwarth, Emmanuelle C. Genin, Cécile Rouzier, Gaëlle Augé, Sabrina Sacconi, Jean Pouget, Véronique Paquis-Flucklinger Tags: Letter to the Editor Source Type: research

Epstein-Barr Virus–associated Extranodal Marginal Zone Lymphoma of Mucosa-associated Lymphoid Tissue (MALT Lymphoma) Arising in the Parotid Gland of a Child With Ataxia Telangiectasia
Hematologic malignancies, in particular T-cell lymphomas/leukemias, are prevalent in patients with ataxia telangiectasia (AT), with most reported cases being clinically aggressive and high grade. Epstein-Barr virus (EBV) is often associated with lymphoid proliferations/neoplasms arising in immunodeficient patients. Reports of low-grade B-cell neoplasms in the ataxia telangiectasia population are extremely rare. Here, we describe a case of EBV-associated extranodal marginal zone lymphoma (mucosa-associated lymphoid tissue lymphoma) of the parotid gland in a 16-year-old boy with AT. In addition, we review the literature of h...
Source: Journal of Pediatric Hematology Oncology - February 18, 2015 Category: Hematology Tags: Clinical and Laboratory Observations Source Type: research

T-cell ALL in Ataxia Telangiectasia Cured With Only 7 Weeks of Anti-leukemic Therapy
A 20-month-old girl diagnosed with T-cell acute lymphoblastic leukemia was treated according to the Nordic NOPHO ALL2000 protocol. The patient developed severe immunosuppression and experienced life-threatening adenovirus infection, which was treated with ribavirin and cidofovir. α-fetoprotein was 20- to 30-fold elevated, and genetic analysis confirmed the diagnosis of ataxia telangiectasia. Despite receiving only 7 weeks of anti-leukemic therapy, she has stayed in first remission now 8 years after the diagnosis. We speculate that this could be because of increased chemosensitivity of ATM-mutated leukemic cells, adenoviru...
Source: Journal of Pediatric Hematology Oncology - February 18, 2015 Category: Hematology Tags: Clinical and Laboratory Observations Source Type: research

Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene.
CONCLUSIONS: To the best of our knowledge, this is the first report on the ophthalmological phenotype associating with a homozygous NEUROD1 null mutation in humans. Our results indicate that the loss of NEUROD1 has similar functional and anatomic consequences in the human retina as those described in mice. The present description can help the diagnosis of future cases and provide clues on the rate of disease progression. PMID: 25684977 [PubMed - as supplied by publisher] (Source: Molecular Vision)
Source: Molecular Vision - February 17, 2015 Category: Molecular Biology Tags: Mol Vis Source Type: research

Magnetic resonance imaging findings in patients presenting with (sub)acute cerebellar ataxia
Conclusion No correlation was found between the presence of initial MRI findings in subacute or acute ataxia patients and their long-term clinical outcome. MR imaging was more flagrantly positive in cases due to encephalitis. (Source: Neuroradiology)
Source: Neuroradiology - February 17, 2015 Category: Radiology Source Type: research

Multiple system atrophy: the application of genetics in understanding etiology
Abstract Classically defined phenotypically by a triad of cerebellar ataxia, parkinsonism, and autonomic dysfunction in conjunction with pyramidal signs, multiple system atrophy (MSA) is a rare and progressive neurodegenerative disease affecting an estimated 3–4 per every 100,000 individuals among adults 50–99 years of age. With a pathological hallmark of alpha-synuclein-immunoreactive glial cytoplasmic inclusions (GCIs; Papp–Lantos inclusions), MSA patients exhibit marked neurodegenerative changes in the striatonigral and/or olivopontocerebellar structures of the brain. As a member of the alpha-synucle...
Source: Clinical Autonomic Research - February 17, 2015 Category: Research Source Type: research

ATM Protein Kinase Signaling, Type 2 Diabetes and Cardiovascular Disease.
Abstract The ataxia-telangiectasia mutated (ATM) protein kinase is well known to play a significant role in the response to double stranded DNA breaks in the nucleus. Recently, it has become apparent that ATM is also involved in a large number of cytoplasmic processes and responses, some of which may contribute to metabolic and cardiovascular complications when disrupted. Due to its involvement in these processes, therapeutic activation of ATM could potentially be a novel approach for the prevention or treatment of cardiovascular disease. However, relatively little is currently known about the cardiovascular role o...
Source: Atherosclerosis - February 17, 2015 Category: Cardiology Authors: Espach Y, Lochner A, Strijdom H, Huisamen B Tags: Cardiovasc Drugs Ther Source Type: research

Role of NOX4 in A-T disease [Genetics]
Ataxia telangiectasia (A-T), a rare autosomal recessive disorder characterized by progressive cerebellar degeneration and a greatly increased incidence of cancer among other symptoms, is caused by a defective or missing ataxia telangiectasia mutated (ATM) gene. The ATM protein has roles in DNA repair and in the regulation of reactive oxygen... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - February 17, 2015 Category: Science Authors: Weyemi, U., Redon, C. E., Aziz, T., Choudhuri, R., Maeda, D., Parekh, P. R., Bonner, M. Y., Arbiser, J. L., Bonner, W. M. Tags: Biological Sciences Source Type: research

ATM Protein Kinase Signaling, Type 2 Diabetes and Cardiovascular Disease
Abstract The ataxia-telangiectasia mutated (ATM) protein kinase is well known to play a significant role in the response to double stranded DNA breaks in the nucleus. Recently, it has become apparent that ATM is also involved in a large number of cytoplasmic processes and responses, some of which may contribute to metabolic and cardiovascular complications when disrupted. Due to its involvement in these processes, therapeutic activation of ATM could potentially be a novel approach for the prevention or treatment of cardiovascular disease. However, relatively little is currently known about the cardiovascular role ...
Source: Cardiovascular Drugs and Therapy - February 16, 2015 Category: Cardiology Source Type: research

Repetitive finger movement performance differs among Parkinson’s disease, Progressive Supranuclear Palsy, and spinocerebellar ataxia
Conclusion: Quantitative analysis of repetitive finger movement performance at faster rates may be helpful to differentiate Parkinson’s Disease, Progressive Supranuclear Palsy and spinocerebellar ataxia. (Source: BioMed Central)
Source: BioMed Central - February 16, 2015 Category: Journals (General) Authors: Elizabeth L StegemöllerJennifer UzochukwuMark D TillmanNikolaus R McFarlandSH SubramonyMichael S OkunChris J Hass Source Type: research

A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset
We report a child carrying a homozygous mutation in the PLA2G6 gene with neonatal onset of disease and somewhat different clinical phenotype such as severe congenital hypotonia, marked weakness, and bulbar signs suggesting that infantile neuroaxonal dystrophy can start at birth with atypical phenotype. (Source: Journal of Child Neurology)
Source: Journal of Child Neurology - February 16, 2015 Category: Neurology Authors: Fusco, C., Frattini, D., Panteghini, C., Pascarella, R., Garavaglia, B. Tags: Brief Communication Source Type: research

Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males
Abstract Recent evidence suggests that early changes in postural control may be discernible among females with premutation expansions (55–200 CGG repeats) of the Fragile X Mental Retardation1 (FMR1) gene at risk of developing fragile X‐associated tremor ataxia syndrome (FXTAS). Cerebellar dysfunction is well described in males and females with FXTAS, yet the interrelationships between cerebellar volume, CGG repeat length, FMR1 mRNA levels, and changes in postural control remain unknown. The current study examined postural sway during standing in a cohort of 22 males with the FMR1 premutation (ages 26–80) and 24 match...
Source: Genes, Brain and Behavior - February 16, 2015 Category: Genetics & Stem Cells Authors: Rachael C. Birch, Darren R. Hocking, Kim M. Cornish, Jasmine C. Menant, Nellie Georgiou‐Karistianis, David E. Godler, Wei Wen, Anna Hackett, Carolyn Rogers, Julian N. Trollor Tags: Original Article Source Type: research

Pearls & Oy-sters: Fragile X tremor/ataxia syndrome: A diagnostic dilemma
Fragile X tremor/ataxia syndrome (FXTAS) is a progressive, adult-onset, X-linked genetic disorder caused by the CGG premutation FMR1 gene. The clinical features of the syndrome are diverse, as patients can present with parkinsonism, bilateral hand tremor, ataxia, and cognitive decline. The syndrome can mimic more common neurodegenerative disorders such as Parkinson disease or the atypical parkinsonian syndromes, Alzheimer disorders, essential tremor, or pure ataxia. Ultimately the diagnosis is supported by recognition of the clinical features, family history, neuroimaging clues, and finally confirmation with genetic testin...
Source: Neurology - February 16, 2015 Category: Neurology Authors: Eye, P. G., Hawley, J. S. Tags: Gait disorders/ataxia, Tremor, Multiple system atrophy, Trinucleotide repeat diseases RESIDENT AND FELLOW SECTION Source Type: research

Simultaneous assessment of cognitive and affective functions in multiple system atrophy and cortical cerebellar atrophy in relation to computerized touch-panel screening tests
Cognitive impairment and affective dysfunction of multiple system atrophy (MSA) and cortical cerebellar atrophy (CCA) have not been simultaneously examined comparing standard test batteries and a sensitive tool to detect subtle cognitive decline in patients. In the present study, we simultaneously examined cognitive and affective ability in MSA with predominant cerebellar ataxia (MSA-C, n = 25), MSA with predominant parkinsonism (MSA-P, n = 8), and CCA (n = 14) patients using computerized touch panel screening tests. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - February 16, 2015 Category: Neurology Authors: Yuko Kawahara, Yoshio Ikeda, Kentaro Deguchi, Tomoko Kurata, Nozomi Hishikawa, Kota Sato, Syoichiro Kono, Taijun Yunoki, Yoshio Omote, Toru Yamashita, Koji Abe Source Type: research

Neurodegenerative Diseases and Therapeutic Strategies using Iron chelators
Publication date: Available online 22 January 2015 Source:Journal of Trace Elements in Medicine and Biology Author(s): Roberta J. Ward , David T. Dexter , Robert R. Crichton This review will summarise the current state of our knowledge concerning the involvement of iron in various neurological diseases and the potential of therapy with iron chelators to retard the progression of the disease. We first discuss briefly the role of metal ions in brain function before outlining the way by which transition metal ions, such as iron and copper, can initiate neurodegeneration through the generation of reactive oxygen and nitrogen...
Source: Journal of Trace Elements in Medicine and Biology - February 15, 2015 Category: Biochemistry Source Type: research

Ataxia-telangiectasia–Mutated Protein Kinase Levels Stratify Patients With Pancreatic Adenocarcinoma Into Prognostic Subgroups With Loss Being a Strong Indicator of Poor Survival
Conclusions: Our analysis shows that both ATM expression and activated ATM are prognostic markers in PDAC with respect to standard clinicopathological parameters. These results suggest that ATM should be further explored as prognostic as well as predictive factor with respect to conventional chemotherapies and for putative synthetic lethal approaches. (Source: Pancreas)
Source: Pancreas - February 13, 2015 Category: Gastroenterology Tags: Original Articles Source Type: research

13. Neuromuscular transmission disorders in miller fisher syndrome
Miller Fisher syndrome (MFS) is a variant of Guillain–Barré syndrome (GBS). MFS is clinically defined by trias – ophthalmoplegia, ataxia, areflexia. Antibodies against ganglioside GQ1b are bound on the nodal and paranodal sections of oculomotor nerves, sensory nerves (including spinal ganglia) and cerebellum. Ophthalmoparesis is usually severe with prominent fatiguability. In these patients neuromuscular transmission disorders are suspected. (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - February 13, 2015 Category: Neuroscience Authors: Edvard Ehler Source Type: research

Spectrum of Sleep Disorders in a Patient with Spinocerebellar Ataxia 13
We report the case of a 52-year-old female with spinocerebellar ataxia (SCA) 13. She presented with complaints of insomnia and had a history of restless legs syndrome. Her polysomnogram revealed that she had a significantly elevated periodic limb movement index, mild obstructive sleep apnea, and the absence of REM sleep. Sleep disorders have previously been described in patients with SCA 1, SCA 2, SCA 3, and SCA 6. To our knowledge, this is the first description of sleep disorders in a patient with SCA 13.Citation:Kapoor M, Greenough G. Spectrum of sleep disorders in a patient with spinocerebellar ataxia 13. J Clin Sleep M...
Source: Journal of Clinical Sleep Medicine : JCSM - February 13, 2015 Category: Sleep Medicine Source Type: research

Horizon Pharma plc Submits Investigational New Drug Application for ACTIMMUNE(R) in the Treatment of Friedreich's Ataxia
Phase 3 Study Expected to Begin in Q2 2015 DUBLIN, IRELAND--(Healthcare Sales & Marketing Network) - Horizon Pharma plc (HZNP), a specialty biopharmaceutical company focused on improving patients' lives by identifying, developing, acquiring and commerci... Biopharmaceuticals, Neurology, FDAHorizon Pharma, ACTIMMUNE, Friedreich's Ataxia (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - February 13, 2015 Category: Pharmaceuticals Source Type: news

Gait and balance in adults with Friedreich's ataxia - Stephenson J, Zesiewicz T, Gooch C, Wecker L, Sullivan K, Jahan I, Kim SH.
Friedreich's ataxia (FA) is an autosomal recessive, neurodegenerative disease characterized by progressive muscle weakness and sensory loss, balance deficits, and gait ataxia. Gait and balance impairments become worse as the disease progresses, but limited... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - February 13, 2015 Category: Global & Universal Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news

Altered p53 and NOX1 activity cause bioenergetic defects in a SCA7 polyglutamine disease model
In this study we identified a previously unreported mechanism, involving disruption of p53 and NADPH oxidase 1 (NOX1) activity, by which the expanded SCA7 disease protein ATXN7 causes metabolic dysregulation. The NOX1 protein is known to promote glycolytic activity, whereas the transcription factor p53 inhibits this process and instead promotes mitochondrial respiration. In a stable inducible PC12 model of SCA7, p53 and mutant ATXN7 co-aggregated and the transcriptional activity of p53 was reduced, resulting in a 50% decrease of key p53 target proteins, like AIF and TIGAR. In contrast, the expression of NOX1 was increased ...
Source: Biochimica et Biophysica Acta (BBA) Bioenergetics - February 13, 2015 Category: Biochemistry Source Type: research

Marchiafava-Bignami Disease Presenting as Acute Dysarthria and Ataxia
(Source: Alcohol and Alcoholism)
Source: Alcohol and Alcoholism - February 13, 2015 Category: Addiction Authors: Garcia-Santibanez, R. Tags: LETTERS TO THE EDITOR Source Type: research

Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)
Conclusions Although TREC screening was developed to identify newborns with SCID, it has also identified T lymphopenic disorders that may not otherwise be diagnosed until later in life. Timely identification of an infant with T lymphopenia allowed for prompt pursuit of underlying etiology, making possible a diagnosis of NBS, genetic counseling, and early intervention to minimize complications. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 13, 2015 Category: Allergy & Immunology Source Type: research

Paroxysmal dysarthria ataxia syndrome responds to lacosamide
(Source: Multiple Sclerosis)
Source: Multiple Sclerosis - February 13, 2015 Category: Neurology Authors: Lilleker, J., Gall, C., Dayanandan, R., Chhetri, S., Emsley, H. Tags: Letter to the Editors Source Type: research

Mild encephalopathy with reversible splenial lesion: An important differential of encephalitis.
Abstract Mild encephalopathy with a reversible splenial lesion (MERS) is a clinico-radiological syndrome characterized by a transient mild encephalopathy and a reversible lesion in the splenium of the corpus callosum on MRI. This syndrome has almost universally been described in children from Japan and East Asia. Here we describe seven cases of MERS occurring in Caucasian Australian children from one centre seen over a 3 year period. All patients had a fever-associated encephalopathy (n = 7), which presented with confusion (n = 4), irritability (n = 3), lethargy (n = 3), slurred speech (n = 3), drowsiness...
Source: European Journal of Paediatric Neurology - February 13, 2015 Category: Neurology Authors: Ka A, Britton P, Troedson C, Webster R, Procopis P, Ging J, Chua YW, Buckmaster A, Wood N, Jones C, Dale RC Tags: Eur J Paediatr Neurol Source Type: research

Trehalose Attenuates the Gait Ataxia and Gliosis of Spinocerebellar Ataxia Type 17 Mice.
In this study, we evaluated the therapeutic potential of trehalose on SCA17 using cerebellar primary and organotypic culture systems and a mouse model. Our results showed that TBP nuclear aggregation was significantly decreased in both the primary and slice cultures. Trehalose (4 %) was further supplied in the drinking water of SCA17 transgenic mice. We found both the gait behavior in the footprint analysis and motor coordination in the rotarod task were significantly improved in the trehalose-treated SCA17 mice. The cerebellar weight was increased and the astrocyte gliosis was reduced in SCA17 mice after trehalose treatm...
Source: Neurochemical Research - February 12, 2015 Category: Neuroscience Authors: Chen ZZ, Wang CM, Lee GC, Hsu HC, Wu TL, Lin CW, Ma CK, Lee-Chen GJ, Huang HJ, Hsieh-Li HM Tags: Neurochem Res Source Type: research

ATM Regulates Adipocyte Differentiation and Contributes to Glucose Homeostasis
Publication date: Available online 12 February 2015 Source:Cell Reports Author(s): Masatoshi Takagi , Hatsume Uno , Rina Nishi , Masataka Sugimoto , Setsuko Hasegawa , Jinhua Piao , Norimasa Ihara , Sayaka Kanai , Saori Kakei , Yoshifumi Tamura , Takayoshi Suganami , Yasutomi Kamei , Toshiaki Shimizu , Akio Yasuda , Yoshihiro Ogawa , Shuki Mizutani Ataxia-telangiectasia (A-T) patients occasionally develop diabetes mellitus. However, only limited attempts have been made to gain insight into the molecular mechanism of diabetes mellitus development in A-T patients. We found that Atm −/− mice were insulin resistant and p...
Source: Cell Reports - February 12, 2015 Category: Cytology Source Type: research

Motor and behavioral phenotype in conditional mutants with targeted ablation of cortical D1 dopamine receptor-expressing cells.
This study shows that loss of cortical Drd1a-expressing cells is sufficient to produce deficits in multiple motor and behavioral domains, independent of striatal mechanisms. Primary cortical changes in the D1 dopamine receptor compartment are therefore likely to model a number of core clinical features in disorders such as Huntington disease and schizophrenia. PMID: 25684539 [PubMed - as supplied by publisher] (Source: Neurobiology of Disease)
Source: Neurobiology of Disease - February 12, 2015 Category: Neurology Authors: Jiang L, O'Leary C, Kim HA, Parish CL, Massalas J, Waddington JL, Ehrlich ME, Schütz G, Gantois I, Lawrence AJ, Drago J Tags: Neurobiol Dis Source Type: research

Parkinsonism, cognitive deficit and behavioral disturbance caused by a novel mutation in the polymerase gamma gene
We present the case of an 80-year old female patient with a history of PEO, ptosis, childish behaviour, obsessive disorder, cognitive decline, and parkinsonism. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - February 11, 2015 Category: Neurology Authors: Manuel Delgado-Alvarado, Patricia de la Riva, Haritz Jimenez-Urbieta, Belén Gago, Alazne Gabilondo, Belén Bornstein, María Cruz Rodriguez-Oroz Tags: Short communication Source Type: research

Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene
We present the case of an 80-year old female patient with a history of PEO, ptosis, childish behaviour, obsessive disorder, cognitive decline, and parkinsonism. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - February 11, 2015 Category: Neurology Authors: Manuel Delgado-Alvarado, Patricia de la Riva, Haritz Jiménez-Urbieta, Belén Gago, Alazne Gabilondo, Belén Bornstein, María Cruz Rodríguez-Oroz Tags: Short communication Source Type: research

Neuroimaging in Sensory Neuronopathy
ABSTRACT Sensory neuronopathies (SN) are a group of disorders characterized by primary damage to the dorsal root ganglia neurons. Clinical features include multifocal areas of hypoaesthesia, pain, dysautonomia, and sensory ataxia, which is the major source of disability. Diagnosis relies upon clinical assessment and nerve conductions studies, but sometimes it is difficult to distinguish SN from similar conditions, such as axonal polyneuropathies and some myelopathies. In this scenario, underdiagnosis is certainly an important issue for SN patients and additional diagnostic tools are needed. MRI is able to evaluate the dors...
Source: Journal of Neuroimaging - February 10, 2015 Category: Radiology Authors: Raphael Fernandes Casseb, Alberto Rolim Muro Martinez, Jean Levi Ribeiro Paiva, Marcondes Cavalcante França Tags: Views and Reviews Source Type: research

Mitochondrial iron homeostasis and its dysfunctions in neurodegenerative disorders
Publication date: Available online 7 February 2015 Source:Mitochondrion Author(s): Natalia P. Mena , Pamela J. Urrutia , Fernanda Lourido , Carlos M. Carrasco , Marco T. Núñez Synthesis of the iron-containing prosthetic groups—heme and iron-sulfur clusters—occurs in mitochondria. The mitochondrion is also an important producer of reactive oxygen species (ROS), which are derived from electrons leaking from the electron transport chain. The coexistence of both ROS and iron in the secluded space of the mitochondrion makes this organelle particularly prone to oxidative damage. Here, we review the elements that configur...
Source: Mitochondrion - February 10, 2015 Category: Biochemistry Source Type: research

Spinocerebellar ataxia-10 with paranoid schizophrenia
We report a Hispanic family involving a father and his four children with SCA10 genetic mutation. Two of his children, a 20-year-old female and a 23-year-old male, presented with gradually progressive spino-cerebellar ataxia and paranoid schizophrenia. Neurological examination revealed ocular dysmetria, dysdiadokinesia, impaired finger-to-nose exam, gait ataxia and hyperreflexia in both the cases. Additionally, they had a history of psychosis with destructive behavior, depression and paranoid delusions with auditory hallucinations. Serology and CSF studies were unremarkable and MRI brain revealed cerebellar volume loss. Ul...
Source: Annals of Indian Academy of Neurology - February 10, 2015 Category: Neurology Authors: Bhavesh TrikamjiParampreet SinghShrikant Mishra Source Type: research