脆性X相关震颤/共济失调综合征
Fragile X-associated tremor/ataxia syndrome
张泽浩 1刘晨曦 1商佳 1彭海龙 1马诗芳 1王佩 1许云鹤 1侯岚1
作者信息
- 1. 保定市第一中心医院神经内科,河北 保定 071000
- 折叠
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.
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.
关键词
脆性X相关震颤/共济失调综合征/前突变/FMR1基因Key words
Fragile X-associated tremor/ataxia syndrome/Premutation/FMR1 gene引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据