| The fragile x-associated tremor and ataxia syndrome (FXTAS). | |
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MedLine Citation:
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PMID: 21049196 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease. |
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Authors:
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Leonardo Pires Capelli; Márcia Rúbia Rodrigues Gonçalves; Claudia C Leite; Egberto R Barbosa; Ricardo Nitrini; Angela M Vianna-Morgante |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Arquivos de neuro-psiquiatria Volume: 68 ISSN: 1678-4227 ISO Abbreviation: Arq Neuropsiquiatr Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-11-04 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0125444 Medline TA: Arq Neuropsiquiatr Country: Brazil |
Other Details:
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Languages: eng Pagination: 791-8 Citation Subset: IM |
Affiliation:
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Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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