The fragile x-associated tremor and ataxia syndrome (FXTAS)

Arquivos de Neuro-Psiquiatria

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】

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