[脆性X相关震颤/共济失调综合征]

[Fragile X-associated tremor/ataxia syndrome].

作者信息

Han Wei-wei, Zhang Lin, Jiang Hong, Tang Bei-sha

机构信息

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Feb;28(1):52-5. doi: 10.3760/cma.j.issn.1003-9406.2011.01.012.

DOI:10.3760/cma.j.issn.1003-9406.2011.01.012

PMID:21287510

Abstract

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 manifestatios, pathological characteristics, epidemiology and molecular mechanisms will be reviewed.

摘要

脆性X相关震颤/共济失调综合征（FXTAS）是一种由FMR1基因变异（PM）引起的神经退行性疾病。主要临床表现为意向性震颤和/或共济失调，其发病机制与RNA毒性有关。本文将对其临床表现、病理特征、流行病学及分子机制的研究进展进行综述。