中风与神经疾病杂志2024，Vol.41Issue(9)：848-853,6.DOI:10.19845/j.cnki.zfysjjbzz.2024.0162
脆性X相关震颤/共济失调综合征
Fragile X-associated tremor/ataxia syndrome
摘要
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分类
医药卫生引用本文复制引用
张泽浩,刘晨曦,商佳,彭海龙,马诗芳,王佩,许云鹤,侯岚..脆性X相关震颤/共济失调综合征[J].中风与神经疾病杂志,2024,41(9):848-853,6.基金项目
保定市科技计划项目(2241ZF038) （2241ZF038）
