Capelli Leonardo Pires, Gonçalves Márcia Rúbia Rodrigues, Leite Claudia C, Barbosa Egberto R, Nitrini Ricardo, Vianna-Morgante Angela M
Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.
Arq Neuropsiquiatr. 2010 Oct;68(5):791-8. doi: 10.1590/s0004-282x2010000500023.
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.
脆性X相关震颤共济失调综合征（FXTAS）是一种迟发性神经退行性疾病，主要影响50岁以上携带FMR1基因前突变的男性。该基因的完全突变会导致脆性X综合征（FXS），这是遗传性智力障碍最常见的病因。受FXTAS影响的个体通常会出现意向性震颤和步态共济失调，可能伴有特定的放射学和/或神经病理学体征。其他常见特征包括帕金森综合征、认知功能减退、周围神经病变和自主神经功能障碍。在其临床特征被描述近十年后，FXTAS在巴西仍未得到充分认识。在此，我们对该疾病的临床、遗传和诊断方面的现有知识进行综述。
