title: [Fragile X-associated tremor/ataxia syndrome].
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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
authors.forename: Wei-wei
authors.initials: WW
authors.lastname: Han
authors.forename: Lin
authors.initials: L
authors.lastname: Zhang
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D001259:Ataxia / Q000235:genetics*; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D014202:Tremor / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human