脆性X相关震颤/共济失调综合征  

Fragile X-associated tremor/ataxia syndrome

作　　者：张泽浩 刘晨曦 商佳 彭海龙 马诗芳(综述) 王佩[1] 许云鹤[1] 侯岚(审校)[1] ZHANG Zehao;LIU Chenxi;SHANG Jia(Department of Neurology,Baoding First Central Hospital,Baoding 071000,China)

机构地区：[1]保定市第一中心医院神经内科,河北保定071000

出　　处：《中风与神经疾病杂志》2024年第9期848-853,共6页Journal of Apoplexy and Nervous Diseases

基　　金：保定市科技计划项目(2241ZF038)。

摘　　要：脆性X相关震颤/共济失调综合征(FXTAS)是一种由于X染色体智能低下1型(FMR1)基因前突变(PM)引起的神经系统变性疾病,由于其发病率低,临床表现复杂多样,往往导致误诊漏诊的情况出现,因此,广大临床医生需提高对该病的认知。本文旨在综述FXTAS的发病机制、临床表现、病理特征、诊断要点等方面的研究进展。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.

关 键 词：脆性X相关震颤/共济失调综合征 前突变 FMR1基因 

分 类 号：R596[医药卫生—内科学]