Fragile X-associated tremor/ataxia syndrome
10.19845/j.cnki.zfysjjbzz.2024.0162
- VernacularTitle:脆性X相关震颤/共济失调综合征
- Author:
Zehao ZHANG
1
;
Chenxi LIU
;
Jia SHANG
Author Information
1. 保定市第一中心医院神经内科,河北 保定 071000
- Keywords:
Fragile X-associated tremor/ataxia syndrome;
Premutation;
FMR1 gene
- From:
Journal of Apoplexy and Nervous Diseases
2024;41(9):848-853
- CountryChina
- Language:Chinese
-
Abstract:
Fragile X-associated tremor/ataxia syndrome(FXTAS)is a neurodegenerative disorder caused by a pre-mutationof the fragile X mental retardation protein 1(FMR1)gene on the X chromosome,and its low incidence rate and complex clinical manifestations often lead to misdiagnosis and missed diagnosis,which requires improving the awareness of this disease among clinicians.This article reviews the recent research advances in the pathogenesis,clinical manifesta-tions,pathological features,and diagnostic criteria of FXTAS.
