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.
CITATION STYLE
Capelli, L. P., Gonçalves, M. R. R., Leite, C. C., Barbosa, E. R., Nitrini, R., & Vianna-Morgante, A. M. (2010). The fragile x-associated tremor and ataxia syndrome (FXTAS). Arquivos de Neuro-Psiquiatria, 68(5), 791–798. https://doi.org/10.1590/S0004-282X2010000500023
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