Whole-body controlled video gaming may help children and adolescents with degenerative ataxia to improve the physical symptoms of their condition, say researchers.
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Work has begun on Neuromics, a major project headed by Tübingen's Professor Olaf Riess; the project beat out ten other first-class applications to attain €12m euros in EU funding over five years.
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The U.S. Food and Drug Administration today approved Fycompa (perampanel) tablets to treat partial onset seizures in patients with epilepsy ages 12 years and older.
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A study of more than 6,000 genes in a common species of yeast has identified the pathways that govern the instability of GAA/TTC repeats. In humans, the expansions of these repeats is known to inactivate a gene - FXN - which leads to Friedreich's ataxia, a neurodegenerative disease that is currently incurable. In yeast, long repeats also destabilize the genome, manifested by the breakage of chromosomes.
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Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHU-Sainte-Justine Research Centre have discovered the genetic cause of a rare disease reported only in patients originating from Newfoundland: hereditary spastic ataxia (HSA).
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Scientists on the Florida campus of The Scripps Research Institute have designed a compound that shows promise as a potential therapy for one of the diseases closely linked to fragile X syndrome, a genetic condition that causes mental retardation, infertility, and memory impairment, and is the only known single-gene cause of autism.
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Scientists, clinicians and patients will gather at the University of South Florida's Center for Advanced Medical Learning and Simulation (CAMLS) in downtown Tampa Sept. 6 to share research insights and energize the search for a cure for Friedreich's ataxia and related disorders.
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A global hunt for the cause of a crippling inherited nerve disorder has found its target. The discovery opens the door for better diagnosis and treatment of this particular disease - but also for better understanding of why nerves in the brain's movement-controlling center die, and how new DNA-mapping techniques can find the causes of other diseases that run in families.
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Inflammation and cell stress play important roles in the death of insulin-secreting cells and are major factors in diabetes. Cell stress also plays a role in Wolfram syndrome, a rare, genetic disorder that afflicts children with many symptoms, including juvenile-onset diabetes.
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A*STAR scientists from the Institute of Molecular and Cell Biology (IMCB) and the Singapore Bioimaging Consortium (SBIC) have discovered a new signalling pathway that controls both obesity and atherosclerosis.
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Double-stranded breaks in cellular DNA can trigger tumorigenesis. Researchers from Ludwig-Maximilians-Universitaet (LMU) in Munich have now determined the structure of a protein involved in the repair and signaling of DNA double-strand breaks. The work throws new light on the origins of neurodegenerative diseases and certain tumor types.
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Clinical signs and symptoms can rarely distinguish posterior circulation infarction from anterior circulation infarction, say researchers.
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Researchers at the University of Helsinki and the Folkh-lsan Research Center, Finland, have identified the genetic cause of early-onset progressive cerebellar degeneration the Finnish Hound dog breed. The study, led by Professor Hannes Lohi, revealed a new disease mechanism in cerebellar degeneration. A mutation was identified in the SEL1L gene, which has no previous link to inherited cerebellar ataxias.
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ViroPharma Incorporated today announced the initiation of a Phase 2 program to evaluate maribavir for the treatment of cytomegalovirus infections in transplant recipients.
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Eisai announced today that the European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion for the use of Fycompa (perampanel) as an adjunctive treatment of partial-onset seizures, with or without secondarily generalised seizures, in patients with epilepsy aged 12 years and older.
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Intellect Neurosciences, Inc., a biopharmaceutical company engaged in the discovery and development of disease-modifying therapeutic agents for the treatment of Alzheimer's and other neurological diseases, today announced two new programs in its Alzheimer's disease development pipeline. The new programs are based on two antibodies that target early neurotoxic forms of tau protein, which Intellect intends to develop for therapeutic and diagnostic uses.
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St. Jude Children's Research Hospital scientists have rewritten the job description of the protein TopBP1 after demonstrating that it guards early brain cells from DNA damage. Such damage might foreshadow later problems, including cancer.
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The Center for NeuroGenetics at the University of Florida has received a competitive $1 million grant from the W.M. Keck Foundation to study a new idea that challenges conventional understanding of how proteins in cells are made, and their impact on inherited diseases.
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Dr Jianguang Ji, Lund University, and Skåne University Hospital, Malmö, Sweden, and colleagues investigated data from the Swedish Cancer Registry. Researchers analyzed Swedish hospital data from 1969 to 2008. They found 1,510 patients with Huntington's disease. During the study period, 91 of those patients subsequently developed cancer. The authors said that was 53% lower than the levels expected for the general population.
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Isobel Dickinson, 62, of Wadsley, Sheffield, suffers from gluten ataxia – a neurological condition that can affect balance, co-ordination and speech. Until her diagnosis six years ago, little did she know that her difficulty balancing was being caused by sensitivity to gluten.
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