期刊论文详细信息
Arquivos de Neuro-Psiquiatria | |
The fragile x-associated tremor and ataxia syndrome (FXTAS) | |
Leonardo Pires Capelli2  Márcia Rúbia Rodrigues Gonçalves1  Claudia C Leite1  Egberto R Barbosa1  Ricardo Nitrini1  Angela M Vianna-morgante2  | |
[1],University of São Paulo Institute of Biosciences Department of Genetics and Evolutionary BiologySão Paulo SP ,Brazil | |
关键词: FXTAS; fragile X-associated tremor/ataxia syndrome; fragile X syndrome; movement disorders; essential tremor; gait ataxia; CGG repeats; FMR1 gene; FXTAS; tremor e ataxia associados ao X frágil; síndrome do X frágil; distúrbios do movimento; tremor essencial; ataxia de marcha; repetições CGG; gene FMR1; | |
DOI : 10.1590/S0004-282X2010000500023 | |
来源: SciELO | |
【 摘 要 】
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.【 授权许可】
CC BY
All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License
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