US hereditary ataxia mutation frequencies compared to EFNS molecular testing guidelines
نویسندگان
چکیده
منابع مشابه
Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report
Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
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EFNS guidelines on neuropathic pain assessment: revised 2009 G. Cruccu, C. Sommer, P. Anand, N. Attal, R. Baron, L. Garcia-Larrea, M. Haanpaa, T. S. Jensen, J. Serra and R. -D. Treede EFNS Panel on Neuropathic Pain, Vienna, Austria; Department of Neurological Sciences, La Sapienza University, Rome, Italy; Department of Neurology, University of Würzburg, Würzburg, Germany; Department of Clinical...
متن کاملEFNS guidelines on the molecular diagnosis of mitochondrial disorders.
OBJECTIVES These European Federation of Neurological Sciences (EFNS) guidelines are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics for diagnosing mitochondrial disorders (MIDs), which gain increasing attention and are more frequently diagnosed due to improved diagnostic tools. BACKGROUND Since the publication of the first EFNS guid...
متن کاملhereditary ataxia
the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...
متن کاملNothing about us without us: guidelines for genetic testing.
Guidelines for genetic testing developed by professional societies may be more centered on the concerns of society members than the needs of the individuals and families that may undergo testing. This could be considered appropriate because it will be the healthcare provider who will assess whether to test; when to test; whom to test; and how to provide the right support, interpretation, and fo...
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ژورنال
عنوان ژورنال: Journal of Systems and Integrative Neuroscience
سال: 2017
ISSN: 2059-9781
DOI: 10.15761/jsin.1000176