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Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
Fragile X syndrome (FXS) and its associated disorders are caused by the expansion of the CGG repeat in the 5[prime] untranslated region of the fragile X mental retardation 1 gene (FMR1). The full mutation, defined as >200 cytosine-guanine-guanine (CGG) triplet repeats, causes FXS. Individuals with 55-199 CGG repeats, classified as premutation carriers, are affected by two distinct disorders depending on their premutation status. Disorders associated with premutation carriers include: Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and Fragile X-associated Primary Ovarian Insufficiency (FXPOI). The molecular similaritie...
Source: BioMed Central - August 19, 2014 Category: Journals (General) Authors: Emmanuel Peprah Source Type: research

Motoric cognitive risk syndrome: Multicountry prevalence and dementia risk
Conclusion: MCR is common in older adults, and is a strong and early risk factor for cognitive decline. This clinical approach can be easily applied to identify high-risk seniors in a wide variety of settings. (Source: Neurology)
Source: Neurology - August 18, 2014 Category: Neurology Authors: Verghese, J., Annweiler, C., Ayers, E., Barzilai, N., Beauchet, O., Bennett, D. A., Bridenbaugh, S. A., Buchman, A. S., Callisaya, M. L., Camicioli, R., Capistrant, B., Chatterji, S., De Cock, A.-M., Ferrucci, L., Giladi, N., Guralnik, J. M., Hausdorff, J Tags: Gait disorders/ataxia, Assessment of cognitive disorders/dementia, Cohort studies, Prevalence studies, Incidence studies ARTICLE Source Type: research

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy
Conclusions: We show that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, ataxia, or Leigh disease. (Source: Neurology)
Source: Neurology - August 18, 2014 Category: Neurology Authors: Ahola, S., Isohanni, P., Euro, L., Brilhante, V., Palotie, A., Pihko, H., Lonnqvist, T., Lehtonen, T., Laine, J., Tyynismaa, H., Suomalainen, A. Tags: All Clinical Neurology, Mitochondrial disorders; see Genetics/Mitochondrial disorders, All Neuro-ophthalmology, All Pediatric, Cardiac ARTICLE Source Type: research

Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS)
Discussion: We suggest that a sensory neuronopathy should be sought in cerebellar and/or vestibular ataxias, particularly where the degree of ataxia is out of proportion to the clinically identified cerebellar and/or vestibular dysfunction. © 2014 Wiley Periodicals, Inc. (Source: Muscle and Nerve)
Source: Muscle and Nerve - August 16, 2014 Category: Internal Medicine Authors: David J Szmulewicz, Linda Seiderer, G. Michael Halmagyi, Elsdon Storey, Leslie Roberts Tags: Research Article Source Type: research

The Ataxia Telangiectasia Mutated and Cyclin D3 Proteins Cooperate To Help Enforce TCRβ and IgH Allelic Exclusion.
Abstract Coordination of V rearrangements between loci on homologous chromosomes is critical for Ig and TCR allelic exclusion. The Ataxia Telangietasia mutated (ATM) protein kinase promotes DNA repair and activates checkpoints to suppress aberrant Ig and TCR rearrangements. In response to RAG cleavage of Igκ loci, ATM inhibits RAG expression and suppresses further Vκ-to-Jκ rearrangements to enforce Igκ allelic exclusion. Because V recombination between alleles is more strictly regulated for TCRβ and IgH loci, we evaluated the ability of ATM to restrict biallelic expression and V-to-DJ recombination of TCRβ an...
Source: Journal of Immunology - August 15, 2014 Category: Allergy & Immunology Authors: Steinel NC, Fisher MR, Yang-Iott KS, Bassing CH Tags: J Immunol Source Type: research

Chromosome End-specific DNA Damage Response in Mitosis [Cell Biology]
Chromosome ends contain nucleoprotein structures known as telomeres. Damage to chromosome ends during interphase elicits a DNA damage response (DDR) resulting in cell cycle arrest. However, little is known regarding the signaling from damaged chromosome ends (designated here as “TIPs”) during mitosis. In the present study, we investigated the consequences of DNA damage induced at a single TIP in mitosis. We used laser microirradiation to damage mitotic TIPs or chromosome arms (non-TIPs) in PtK2 kidney epithelial cells. We found that damage to a single TIP, but not a non-TIP, delays anaphase onset. This TIP-specific che...
Source: Journal of Biological Chemistry - August 14, 2014 Category: Chemistry Authors: Silva, B. A., Stambaugh, J. R., Yokomori, K., Shah, J. V., Berns, M. W. Tags: DNA and Chromosomes Source Type: research

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
Polyglutamine-coding (CAG)n repeat expansions in seven different genes cause spinocerebellar ataxias. Although the size of the expansion is negatively correlated with age at onset, it accounts for only 50–70% of its variability. To find other factors involved in this variability, we performed a regression analysis in 1255 affected individuals with identified expansions (spinocerebellar ataxia types 1, 2, 3, 6 and 7), recruited through the European Consortium on Spinocerebellar Ataxias, to determine whether age at onset is influenced by the size of the normal allele in eight causal (CAG)n-containing genes (ATXN1&ndash...
Source: Brain - August 13, 2014 Category: Neurology Authors: Tezenas du Montcel, S., Durr, A., Bauer, P., Figueroa, K. P., Ichikawa, Y., Brussino, A., Forlani, S., Rakowicz, M., Schols, L., Mariotti, C., van de Warrenburg, B. P. C., Orsi, L., Giunti, P., Filla, A., Szymanski, S., Klockgether, T., Berciano, J., Pand Tags: Original Articles Source Type: research

Neuroaxonal dystrophy in Merino‐Border Leicester × Polled Dorset lambs
ConclusionsThis is the first report of NAD in such crossbred lambs; the affected animals were much younger than in previously described cases of ovine NAD and myelin loss was of much greater magnitude than previously reported. (Source: Australian Veterinary Journal)
Source: Australian Veterinary Journal - August 13, 2014 Category: Veterinary Research Authors: JW Finnie, IV Jerrett, J Manavis, J Cave Tags: CASE REPORT Source Type: research

Multimodal evoked potentials in spinocerebellar ataxia types 1, 2, and 3
Conclusions: BAER was the most frequent abnormality in SCA types 1, 2, and 3; abnormalities of mSSEP were comparable in the three SCAs; whereas, abnormality of VEP was less often noted in SCA3. (Source: Annals of Indian Academy of Neurology)
Source: Annals of Indian Academy of Neurology - August 12, 2014 Category: Neurology Authors: Vijay ChandranKetan JhunjhunwalaMeera PurushottamSanjeev JainPramod Kumar Pal Source Type: research

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
Conclusions This study expands our understanding of the cause of autosomal-dominant SCAs, a group of heterogeneous congenital neurological conditions in humans, and unveils a link between the JNK stress pathway and cerebellar atrophy. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 12, 2014 Category: Genetics & Stem Cells Authors: Tsoi, H., Yu, A. C. S., Chen, Z. S., Ng, N. K. N., Chan, A. Y. Y., Yuen, L. Y. P., Abrigo, J. M., Tsang, S. Y., Tsui, S. K. W., Tong, T. M. F., Lo, I. F. M., Lam, S. T. S., Mok, V. C. T., Wong, L. K. S., Ngo, J. C. K., Lau, K.-F., Chan, T.-F., Chan, H. Y. Tags: Open access Phenotypes Source Type: research

Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, et al. Prediction of the age at onset in spinocerebellar ataxia type 1,2,3 and 6. J Med Genet 2014;51:479–86. doi:10.1136/jmedgenet-2013-102200. The author's name Béla Melegh has been corrected. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 12, 2014 Category: Genetics & Stem Cells Tags: Correction Source Type: research

Rapidly Progressive Ataxia During Rehabilitation and a Difficult Road to Diagnosis
(Source: Journal of the American Geriatrics Society)
Source: Journal of the American Geriatrics Society - August 12, 2014 Category: Geriatrics Authors: Yat‐Fung Shea, Tuen‐Ching Chan, Richard Shek‐Kwan Chang, Fong‐Kwong Sonny Hon, Joseph Shiu‐Kwong Kwan, Leung‐Wing Chu Tags: Letters to the Editor Source Type: research

Deferiprone in Friedreich’s Ataxia: A six‐month randomized controlled trial
This study demonstrated an acceptable safety profile of deferiprone at 20 mg/kg/day for the treatment of patients with FRDA. Subgroup analyses raise the possibility that, in patients with less severe disease, deferiprone 20 mg/kg/day may reduce disease progression, while higher doses appear to worsen ataxia. ANN NEUROL 2014. © 2014 American Neurological Association (Source: Annals of Neurology)
Source: Annals of Neurology - August 11, 2014 Category: Neurology Authors: Massimo Pandolfo, Javier Arpa, Martin B. Delatycki, Kim Hanh Le Quan Sang, Caterina Mariotti, Arnold Munnich, Irene Sanz‐Gallego, Geneieve Tai, Mark A. Tarnopolsky, Franco Taroni, Michael Spino, Fernando Tricta Tags: Research Article Source Type: research

Gait analysis and the cumulative gait index (CGI): Translational tools to assess impairments exhibited by rats with olivocerebellar ataxia.
This study characterizes gait alterations in laboratory rats rendered ataxic by destruction of the climbing fiber pathway innervating Purkinje cells and demonstrates that a single index can be used to describe overall gait impairments. PMID: 25116252 [PubMed - as supplied by publisher] (Source: Behavioural Brain Research)
Source: Behavioural Brain Research - August 10, 2014 Category: Neurology Authors: Lambert CS, Philpot RM, Engberg ME, Johns BE, Kim SH, Wecker L Tags: Behav Brain Res Source Type: research

[Comment] Nicotinamide in Friedreich's ataxia: useful or not?
Friedreich's ataxia is an autosomal recessive neurodegenerative disorder caused by mutations in the frataxin gene (FXN), leading to progressive ataxia, cardiomyopathy, scoliosis, and various other clinical features. Most patients have GAA repeat expansions in intron 1 of FXN, leading to decreased concentrations of frataxin protein and downstream mitochondrial dysfunction. The GAA repeats lead to gene silencing through heterochromatin formation, and decreased transcription of FXN mRNA. The coding region of the mRNA and the aminoacid sequence of the protein are normal, but the amount of protein produced is reduced; as a resu...
Source: LANCET - August 9, 2014 Category: Journals (General) Authors: David R Lynch, Kenneth H Fischbeck Tags: Comment Source Type: research

[Department of Error] Department of Error
Libri V, Yandim C, Athanasopoulos S, et al. Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study. Lancet 2014; 384: 504–13—This Article should have been published under a Creative Commons CC BY open-access licence. The correction has been made to the online version as of May 8, 2014, and to the printed Article. (Source: LANCET)
Source: LANCET - August 9, 2014 Category: Journals (General) Authors: The Lancet Tags: Department of Error Source Type: research

[Department of Error] Department of Error
Lynch DR, Fischbeck KH. Nicotinamide in Friedreich's ataxia: useful or not? Lancet 2014; 384: 474–75—This Comment should have been published under a Creative Commons CC BY open-access licence. The correction has been made to the online version as of May 29, 2014, and to the printed Comment. (Source: LANCET)
Source: LANCET - August 9, 2014 Category: Journals (General) Authors: The Lancet Tags: Department of Error Source Type: research

[Articles] Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study
Nicotinamide was associated with a sustained improvement in frataxin concentrations towards those seen in asymptomatic carriers during 8 weeks of daily dosing. Further investigation of the long-term clinical benefits of nicotinamide and its ability to ameliorate frataxin deficiency in Friedreich's ataxia is warranted. (Source: LANCET)
Source: LANCET - August 9, 2014 Category: Journals (General) Authors: Vincenzo Libri, Cihangir Yandim, Stavros Athanasopoulos, Naomi Loyse, Theona Natisvili, Pui Pik Law, Ping Kei Chan, Tariq Mohammad, Marta Mauri, Kin Tung Tam, James Leiper, Sophie Piper, Aravind Ramesh, Michael H Parkinson, Les Huson, Paola Giunti, Richar Tags: Articles Source Type: research

Training balance with opto-kinetic stimuli in the home: a randomized controlled feasibility study in people with pure cerebellar disease - Bunn LM, Marsden JF, Giunti P, Day BL.
OBJECTIVE: To investigate the feasibility of a randomized controlled trial of a home-based balance intervention for people with cerebellar ataxia. DESIGN: A randomized controlled trial design. SETTING: Intervention and assessment took place in the ... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - August 8, 2014 Category: Global & Universal Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news

The first knockin mouse model of episodic ataxia type 2.
Abstract Episodic ataxia type 2 (EA2) is an autosomal dominant disorder associated with attacks of ataxia that are typically precipitated by stress, ethanol, caffeine or exercise. EA2 is caused by loss-of-function mutations in the CACNA1A gene, which encodes the α1A subunit of the CaV2.1 voltage-gated Ca(2+) channel. To better understand the pathomechanisms of this disorder in vivo, we created the first genetic animal model of EA2 by engineering a mouse line carrying the EA2-causing c.4486T>G (p.F1406C) missense mutation in the orthologous mouse Cacna1a gene. Mice homozygous for the mutated allele exhibit a ~70...
Source: Experimental Neurology - August 7, 2014 Category: Neurology Authors: Rose SJ, Kriener LH, Heinzer AK, Fan X, Raike RS, van den Maagdenberg AM, Hess EJ Tags: Exp Neurol Source Type: research

Speckle-type POZ protein, SPOP, is involved in the DNA damage response
Speckle-type POZ protein (SPOP) is an adaptor of the cullin 3-based ubiquitin ligase responsible for the degradation of oncoproteins frequently overexpressed in many tumor cells. Altered expression and somatic mutations of SPOP have been observed in various tumor types with chromosomal aberrations, indicating a role of SPOP in maintaining genome stability, although a detailed mechanism remains unclear. Here, we show that SPOP is a component of the DNA damage response (DDR). SPOP is recruited to DNA double-strand break sites and it forms nuclear foci after DNA damage. SPOP foci colocalize with -H2AX foci and are predominant...
Source: Carcinogenesis - August 6, 2014 Category: Cancer & Oncology Authors: Zhang, D., Wang, H., Sun, M., Yang, J., Zhang, W., Han, S., Xu, B. Tags: Original Manuscript Source Type: research

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2
This report describes a rare type of familial AS detected using the D15S10 FISH test. © 2014 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 6, 2014 Category: Genetics & Stem Cells Authors: Yukiko Kuroda, Ikuko Ohashi, Toshiyuki Saito, Jun‐Ichi Nagai, Kazumi Ida, Takuya Naruto, Takahito Wada, Kenji Kurosawa Tags: Clinical Report Source Type: research

Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia
Conclusions Frataxin measurements from peripheral tissues can be used to identify FRDA patients and carriers. While multiple cell types and assays may be useful for diagnostic purposes, each assay and cell type used has its advantages and disadvantages depending on study design and scope. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - August 6, 2014 Category: Neurosurgery Authors: Deutsch, E. C., Oglesbee, D., Greeley, N. R., Lynch, D. R. Tags: Genetics, Immunology (including allergy), Brain stem / cerebellum, Drugs: CNS (not psychiatric), Spinal cord Movement disorders Source Type: research

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation
Conclusions We diagnosed these patients as having adult CHS presenting spastic paraplegia with cerebellar ataxia and neuropathy. The clinical spectrum of CHS is broader than previously recognised. Adult CHS must be considered in the differential diagnosis of AR-HSP. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - August 6, 2014 Category: Neurosurgery Authors: Shimazaki, H., Honda, J., Naoi, T., Namekawa, M., Nakano, I., Yazaki, M., Nakamura, K., Yoshida, K., Ikeda, S.-i., Ishiura, H., Fukuda, Y., Takahashi, Y., Goto, J., Tsuji, S., Takiyama, Y. Tags: Genetics, Immunology (including allergy), Brain stem / cerebellum, Drugs: CNS (not psychiatric), Neuromuscular disease, Peripheral nerve disease Neurogenetics Source Type: research

Cortical susceptibility-weighted imaging hypointensity after stroke-like episode in MELAS
A 49-year-old woman with a known m.3243A>G tRNALeu(UUR) mutation (ie, the most frequent mutation in mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS)) diagnosed in the presence of migraine, diabetes mellitus, neurosensory hearing loss, short stature, cognitive deficit, ataxia and elevated lactate levels, presented with subacute aphasia and right hemiplegia. Brain MRI showed a typical stroke-like lesion in the left temporal and parietal lobe and prerolandic cortex. At this time, gradient-echo T2-weighted imaging showed hyperintensities in the involved regions (also visible on T2-weighted and ...
Source: Journal of Neurology, Neurosurgery and Psychiatry - August 6, 2014 Category: Neurosurgery Authors: Renard, D., Taieb, G. Tags: Immunology (including allergy), Headache (including migraine), Neuroimaging Neurological pictures Source Type: research

Genetics Home Reference: dilated cardiomyopathy with ataxia syndrome (Source: NLM General Announcements)
Source: NLM General Announcements - August 5, 2014 Category: Databases & Libraries Source Type: news

CAMTA controls Purkinje cell function and survival [Neuroscience]
Members of the calmodulin-binding transcription activator (CAMTA) family of proteins function as calcium-sensitive regulators of gene expression in multicellular organisms ranging from plants to humans. Here, we show that global or nervous system deletion of CAMTA1 in mice causes severe ataxia with Purkinje cell degeneration and cerebellar atrophy, partially resembling... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - August 5, 2014 Category: Science Authors: Long, C., Grueter, C. E., Song, K., Qin, S., Qi, X., Kong, Y. M., Shelton, J. M., Richardson, J. A., Zhang, C.-L., Bassel-Duby, R., Olson, E. N. Tags: Biological Sciences Source Type: research

What Is Ataxia and What Causes It?
Ataxia in common usage means unsteady gait. More ... (Source: Bipolar Disorder)
Source: Bipolar Disorder - August 5, 2014 Category: Psychiatry Authors: at Tags: health Source Type: news

Linkage analysis and whole-exome sequencing exclude extra mutations responsible for the parkinsonian phenotype of SCA2
CAG expansion within the exon 1 of ataxin-2 (ATXN2) gene responsible for spinocerebellar ataxia-2 (SCA2) has been reported to cause pure parkinsonism and other neurodegenerative disorders. However, it remains unclear whether CAG expansion is the only cause for SCA2 and its clinical alternatives, and whether extra mutations exist to modify the phenotypic diversity. To address this, we have conducted fine genetic mapping and exome sequencing for a large Chinese SCA2 pedigree predominantly manifesting parkinsonism (called SCA2-P). (Source: Neurobiology of Aging)
Source: Neurobiology of Aging - August 2, 2014 Category: Neuroscience Authors: Chaodong Wang, Yanming Xu, Xiuli Feng, Jinghong Ma, Shu Xie, Yanli Zhang, Bei-Sha Tang, Piu Chan Source Type: research

Cerebrotendinous Xanthomatosis: The Effectiveness of High-Dose Piracetam for the Treatment of Cerebellar and Sensorial Ataxia.
PMID: 25084753 [PubMed - as supplied by publisher] (Source: Cerebellum)
Source: Cerebellum - August 2, 2014 Category: Neuroscience Authors: Uygunoglu U, Gunduz A, Menku SF, Yilmaz B, Hatipoglu E, Yalcinkaya C, Saip S, Apaydin H Tags: Cerebellum Source Type: research

Brain penetration of emodepside is increased in P‐glycoprotein‐deficient mice and leads to neurotoxicosis
In conclusion, P‐gp restricts brain penetration of EMO and prevents neurological toxicity of this drug in mice. (Source: Journal of Veterinary Pharmacology and Therapeutics)
Source: Journal of Veterinary Pharmacology and Therapeutics - August 1, 2014 Category: Veterinary Research Authors: S. Elmshäuser, L. C. Straehle, J. Kranz, R. Krebber, J. Geyer Tags: Scientific Paper Source Type: research

GLUTAMATE RECEPTOR ANTIBODIES IN NEUROLOGICAL DISEASES: Anti-AMPA-GluR3 antibodies, Anti-NMDA-NR1 antibodies, Anti-NMDA-NR2A/B antibodies, Anti-mGluR1 antibodies or Anti-mGluR5 antibodies are present in subpopulations of patients with either: Epilepsy, Encephalitis, Cerebellar Ataxia, Systemic Lupus Erythematosus (SLE) and Neuropsychiatric SLE, Sjogren's syndrome, Schizophrenia, Mania or Stroke. These autoimmune anti-glutamate receptor antibodies can bind neurons in few brain regions, activate glutamate receptors, decrease glutamate receptor's expression, impair glutamate-induced signaling and function, activate Blood Brain Barrier endothelial cells, kill neurons, damage the brain, induce behavioral/psychiatric/cognitive abnormalities and Ataxia in animal models, and can be removed or silenced in some patients by immunotherapy.
Abstract Glutamate is the major excitatory neurotransmitter of the Central Nervous System (CNS), and it is crucially needed for numerous key neuronal functions. Yet, excess glutamate causes massive neuronal death and brain damage by excitotoxicity-detrimental over activation of glutamate receptors. Glutamate-mediated excitotoxicity is the main pathological process taking place in many types of acute and chronic CNS diseases and injuries. In recent years, it became clear that not only excess glutamate can cause massive brain damage, but that several types of anti-glutamate receptor antibodies, that are present in t...
Source: Herpes - August 1, 2014 Category: Infectious Diseases Authors: Levite M Tags: J Neural Transm Source Type: research

Monitoring mood states in everyday life: A new device for patients with cerebellar ataxia
Thirty patients with cerebellar ataxia and 40 healthy volunteers underwent 7 days of mood monitoring using a new device requiring a low motor load. Its convergent validity and compliance were tested. The measurements resulted consistent with validated scale scores. Patients’ motor impairment did not affect the compliance. (Source: Psychiatry Research)
Source: Psychiatry Research - August 1, 2014 Category: Psychiatry Authors: Silvia Clausi, Fabio Aloise, Maria P. Contento, Luigi Pizzamiglio, Marco Molinari, Maria Leggio Source Type: research

Physical therapy for correcting postural and coordination deficits in patients with mild-to-moderate traumatic brain injury.
Abstract Abstract The purpose of this study was to test the effects of a conventional exercise program designed for correcting postural and coordination abnormalities in patients with mild-to-moderate traumatic brain injury (TBI). Using principles of motor learning applied to functional exercise training, exercises were performed while lying, sitting, standing and walking, with the goal of improving intra- and inter-limb coordination in the upper and lower extremities, postural stability and gait pattern. Twenty-two participants with TBI-related deficits received therapy in a supervised outpatient clinic. Therapy i...
Source: Physiotherapy Theory and Practice - August 1, 2014 Category: Physiotherapy Authors: Ustinova KI, Chernikova LA, Dull A, Perkins J Tags: Physiother Theory Pract Source Type: research

ATM regulates NF-{kappa}B-dependent immediate-early genes via RelA Ser 276 phosphorylation coupled to CDK9 promoter recruitment
Ataxia-telangiectasia mutated (ATM), a member of the phosphatidylinositol 3 kinase-like kinase family, is a master regulator of the double strand DNA break-repair pathway after genotoxic stress. Here, we found ATM serves as an essential regulator of TNF-induced NF-kB pathway. We observed that TNF exposure of cells rapidly induced DNA double strand breaks and activates ATM. TNF-induced ROS promote nuclear IKK association with ubiquitin and its complex formation with ATM for nuclear export. Activated cytoplasmic ATM is involved in the selective recruitment of the E3-ubiquitin ligase β-TrCP to phospho-IBα proteosom...
Source: Nucleic Acids Research - July 31, 2014 Category: Research Authors: Fang, L., Choudhary, S., Zhao, Y., Edeh, C. B., Yang, C., Boldogh, I., Brasier, A. R. Tags: Genome integrity, repair and replication Source Type: research

Training balance with opto-kinetic stimuli in the home: a randomized controlled feasibility study in people with pure cerebellar disease.
CONCLUSIONS: Home-based targeted training of functional balance for people with pure cerebellar ataxia is feasible and the outcome measures employed are reliable. PMID: 25082955 [PubMed - as supplied by publisher] (Source: Clinical Rehabilitation)
Source: Clinical Rehabilitation - July 31, 2014 Category: Rehabilitation Authors: Bunn LM, Marsden JF, Giunti P, Day BL Tags: Clin Rehabil Source Type: research

The antioxidant butylated hydroxyanisole potentiates the toxic effects of propylparaben in cultured mammalian cells.
In this study, a set of relevant cytotoxicity endpoints including cell viability and proliferation, oxidative stress, DNA damage and gene expression changes were analyzed to assess whether the antioxidant butylated hydroxyanisole could prevent the pro-oxidant effects caused by propylparaben in Vero cells. We demonstrated that binary mixtures of both chemicals induce greater cytotoxic effects than those reported after single exposureto each compound. Simultaneous treatment with butylated hydroxyanisole and propylparaben caused G0/G1 cell cycle arrest as a result of enhanced generation of oxidative stress and DNA double stra...
Source: Food and Chemical Toxicology - July 30, 2014 Category: Food Science Authors: Martín JM, Freire PF, Daimiel L, Martínez-Botas J, Sánchez CM, Lasunción MA, Peropadre A, Hazen MJ Tags: Food Chem Toxicol Source Type: research

Most hydrogen peroxide-induced histone H2AX phosphorylation is mediated by ATR and is not dependent on DNA double-strand breaks
The nuclear foci of phosphorylated histone H2AX (H2AX) are frequently used as a marker for DNA double-strand breaks (DSBs) following ionizing radiation (IR). However, recent studies reported that H2AX foci do not necessarily correlate with DSBs under other conditions. We showed that H2AX foci induced by oxidative stress in hydrogen peroxide (H2O2)-treated cells displayed several different features from those induced by IR. The magnitude of H2AX induction was heterogeneous among H2O2-treated cells. Some cells expressed small discrete H2AX foci, whereas others expressed a gross H2AX signal that was distributed throughout the...
Source: Journal of Biochemistry - July 28, 2014 Category: Biochemistry Authors: Katsube, T., Mori, M., Tsuji, H., Shiomi, T., Wang, B., Liu, Q., Nenoi, M., Onoda, M. Tags: Regular Papers Source Type: research

Locomotion training using voluntary driven exoskeleton (HAL) in acute incomplete SCI
A 34-year-old man had a traumatic thoracic spinal cord injury, with vertebral fracture and a right acetabulum fracture. Dorsal spinal fusion of T6 through T9 was performed on admission. The initial American Spinal Injury Association (ASIA) Impairment Scale (C) showed incomplete motor T10 lesion. (Source: Neurology)
Source: Neurology - July 28, 2014 Category: Neurology Authors: Cruciger, O., Tegenthoff, M., Schwenkreis, P., Schildhauer, T. A., Aach, M. Tags: Gait disorders/ataxia, Spastic paraplegia, All Rehabilitation, Spinal cord trauma; see Trauma/spinal cord trauma, Spinal cord trauma VIDEO NEUROIMAGES Source Type: research

Upper Body Kinematics in Patients with Cerebellar Ataxia.
In conclusion, our study revealed abnormal motor behaviour of the upper body in ataxic patients, mainly resulting in a flexed posture and larger oscillations of the head and trunk. The results of the correlation analyses suggest that the longer and more severe the disease, the larger the upper body oscillations and that large trunk oscillations may explain some aspects of gait variability. These results suggest the need of specific rehabilitation treatments or the use of elastic orthoses that may be particularly useful to reduce trunk oscillations and improve dynamic stability. PMID: 25063003 [PubMed - as supplied by p...
Source: Cerebellum - July 27, 2014 Category: Neuroscience Authors: Conte C, Pierelli F, Casali C, Ranavolo A, Draicchio F, Martino G, Harfoush M, Padua L, Coppola G, Sandrini G, Serrao M Tags: Cerebellum Source Type: research

Paralytic shellfish poisoning: a case series - Hurley W, Wolterstorff C, MacDonald R, Schultz D.
We describe a case series of seven patients presenting to an emergency department with symptoms of paralytic shellfish poisoning. They developed varying degrees of nausea, vomiting, diarrhea, weakness, ataxia and paresthesias after eating mussels harvested... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - July 26, 2014 Category: Global & Universal Tags: Home and Consumer Product Safety Source Type: news

Homeostatic regulation of meiotic DSB formation by ATM/ATR.
Abstract Ataxia-telangiectasia mutated (ATM) and RAD3-related (ATR) are widely known as being central players in the mitotic DNA damage response (DDR), mounting responses to DNA double strand breaks (DSBs) and single-stranded DNA (ssDNA) respectively. The DDR signalling cascade couples cell-cycle control to damage-sensing and repair processes in order to prevent untimely cell-cycle progression while damage still persists [1]. Both ATM/ATR are, however, also emerging as essential factors in the process of meiosis; a specialised cell cycle programme responsible for the formation of haploid gametes via two sequential ...
Source: Experimental Cell Research - July 26, 2014 Category: Cytology Authors: Cooper TJ, Wardell K, Garcia V, Neale MJ Tags: Exp Cell Res Source Type: research

Valproic acid attenuates the suppression of acetyl histone H3 and CREB activity in an inducible cell model of Machado-Joseph disease.
Abstract Machado-Joseph disease (MJD) is caused by a (CAG) n trinucleotide repeat expansion that is translated into an abnormally long polyglutamine tract. This disease is considered the most common form of spinocerebellar ataxia (SCA). In the present study, we developed stable inducible cell lines (PC12Tet-On-Ataxin-3-Q28/84) expressing ataxin-3 with either normal or abnormal CAG repeats under doxycycline control. The expression of acetyl histone H3 and the induction of c-Fos in response to cAMP were strongly suppressed in cells expressing the protein with the expanded polyglutamine tract. Treatment with valproic ...
Source: International Journal of Developmental Neuroscience - July 25, 2014 Category: Neuroscience Authors: Lin XP, Feng L, Xie CG, Chen DB, Pei Z, Liang XL, Xie QY, Li XH, Pan SY Tags: Int J Dev Neurosci Source Type: research

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia
Summary Epilepsy affects approximately 1% of the world's population. Genetic factors and acquired etiologies, as well as a range of environmental triggers, together contribute to epileptogenesis. We have identified a family with three daughters affected with progressive myoclonus epilepsy with ataxia. Clinical details of the onset and progression of the neurologic presentation, epileptic seizures, and the natural history of progression over a 10‐year period are described. Using autozygosity genetic mapping, we identified a high likelihood homozygous region on chromosome 7p12.1‐7q11.22. We subsequently applied whole‐e...
Source: Epilepsia - July 24, 2014 Category: Neurology Authors: Sali M. K. Farhan, Lisa M. Murphy, John F. Robinson, Jian Wang, Victoria M. Siu, C. Anthony Rupar, Asuri N. Prasad, , Robert A. Hegele Tags: Brief Communication Source Type: research

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in FTD-ALS
Mutations in the CHCHD10 gene have been recently identified in a large family with a complex phenotype variably associating frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS), cerebellar ataxia, myopathy and hearing impairment. CHCHD10 encodes a protein located in the mitochondrial intermembrane space and is likely involved in mitochondrial genome (mtDNA) stability and maintenance of cristae junctions. However, the exact contribution of CHCHD10 in FTD and ALS diseases spectrum remains unknown. (Source: Neurobiology of Aging)
Source: Neurobiology of Aging - July 24, 2014 Category: Neuroscience Authors: Annabelle Chaussenot, Isabelle Le Ber, Samira Ait-El-Mkadem, Agnès Camuzat, Anne de Septenville, Sylvie Bannwarth, Emmanuelle C. Genin, Valérie Serre, Gaëlle Augé, French research network on FTD and FTD-ALS, Alexis Brice, Jean Pouget, Véronique Paqui Source Type: research

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

Prevention of DNA damage by l-carnitine induced by metabolites accumulated in maple syrup urine disease in human peripheral leukocytes in vitro.
Abstract Maple syrup urine disease (MSUD) is an inherited aminoacidopathy caused by a deficiency in branched-chain α-keto acid dehydrogenase complex activity that leads to the accumulation of the branched-chain amino acids (BCAAs) leucine (Leu), isoleucine, and valine and their respective α-keto-acids, α-ketoisocaproic acid (KIC), α keto-β-methylvaleric acid, and α-ketoisovaleric acid. The major clinical features presented by MSUD patients include ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this diseas...
Source: Gene - July 18, 2014 Category: Genetics & Stem Cells Authors: Mescka CP, Wayhs CA, Guerreiro G, Manfredini V, Dutra-Filho CS, Vargas CR Tags: Gene Source Type: research