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lüll The fragile x-associated tremor and ataxia syndrome (FXTAS) Capelli LP; Goncalves MR; Leite CC; Barbosa ER; Nitrini R; Vianna-Morgante AMArq Neuropsiquiatr 2010[Oct]; 68 (5): 791-8FXTAS (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.|*Ataxia/diagnosis/drug therapy/genetics[MESH]|*Fragile X Syndrome/diagnosis/drug therapy/genetics[MESH]|*Tremor/diagnosis/drug therapy/genetics[MESH]|Animals[MESH]|Fragile X Mental Retardation Protein/*genetics[MESH]|Humans[MESH]|Magnetic Resonance Imaging[MESH]|Male[MESH]|Middle Aged[MESH] |