脆性X相关震颤和（或）共济失调综合征

Fragile X-associated tremor/ataxia syndrome

脆性X相关震颤和（或）共济失调综合征（fragile X-associated tremor／ataxia syndrome，FXTAS）是由FMR1基因的前突变（premutation，PM）所导致的一种神经退行性疾病，其临床表现主要为意向性震颤和（或）共济失调，其发病机制与RNA毒性获得机制有关。本文就FXTAS的临床表现、病理特征、流行病学及分子机制等的研究进展做一综述。

Fragile X-associated tremor/ataxia syndrome （FXTAS） is a neurodegenerative disease caused by FMR1 gene permutation （PM）. The main clinical manifestations are intention tremor and/or ataxia, and the pathogenesis was related to RNA toxicity. In this paper, the research progress of clinical manifestations, pathological characteristics, epidemiology and molecular mechanisms will be reviewed.