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

• Autor(a) principal: Capelli,Leonardo Pires
• Data de Publicação: 2010
• Outros Autores: Gonçalves,Márcia Rúbia Rodrigues, Leite,Claudia C, Barbosa,Egberto R, Nitrini,Ricardo, Vianna-Morgante,Angela M
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de neuro-psiquiatria (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000500023
• topic: FXTAS; fragile X-associated tremor/ataxia syndrome; fragile X syndrome; movement disorders; essential tremor; gait ataxia; CGG repeats; FMR1 gene

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.