Fragile X-associated tremor/ataxia syndrome.
10.3760/cma.j.issn.1003-9406.2011.01.012
- Author:
Wei-wei HAN
1
;
Lin ZHANG
;
Hong JIANG
;
Bei-sha TANG
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
- Publication Type:Journal Article
- MeSH:
Ataxia;
genetics;
Female;
Fragile X Mental Retardation Protein;
genetics;
Fragile X Syndrome;
complications;
diagnosis;
genetics;
pathology;
Humans;
Male;
Tremor;
genetics
- From:
Chinese Journal of Medical Genetics
2011;28(1):52-55
- CountryChina
- Language:Chinese
-
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.
