国际神经病学神经外科学杂志2026，Vol.53Issue(1)：76-80,5.DOI:10.16636/j.cnki.jinn.1673-2642.2026.01.012
脊髓小脑性共济失调4型的研究进展:遗传学机制、临床特征与治疗前景
Research advances in spinocerebellar ataxia type 4:genetic mechanisms,clinical features,and treatment prospects
李学明 1丁卫江 2李银 2姜涛 3徐恩旺4
作者信息
- 1. 南昌大学第二附属医院全科医学科,江西 南昌 330000
- 2. 南昌大学第二附属医院神经内科,江西 南昌 330000
- 3. 赣南医科大学第一附属医院神经内科,江西 赣州 341000
- 4. 上饶市中心医院(江西医学高等专科学校第一附属医院)神经医学科,江西 上饶 334000
- 折叠
摘要
Abstract
Spinocerebellar ataxia type 4(SCA4)is a rare type of autosomal dominant hereditary ataxia characterized by progressive cerebellar gait disturbance,balance impairment,and multisystem neurological involvement.Recent studies have identified a GGC repeat expansion in the ZFHX3 gene as the pathogenic mechanism of SCA4;however,the pathogenesis and clinical phenotypic variability of SCA4,as well as the differences between SCA4 and other SCA subtypes,remain unclear,and symptomatic and supportive treatment is currently the main treatment method for SCA4.This article summarizes the clinical features,genetic progression,and molecular mechanism of SCA4 and discusses the new strategies such as targeted therapy and gene therapy,in order to provide a reference for precise diagnosis and treatment in the future.关键词
脊髓小脑性共济失调4型/ZFHX3基因/遗传机制/临床特征/治疗进展Key words
spinocerebellar ataxia type 4/ZFHX3 gene/genetic mechanism/clinical features/treatment advances分类
医药卫生引用本文复制引用
李学明,丁卫江,李银,姜涛,徐恩旺..脊髓小脑性共济失调4型的研究进展:遗传学机制、临床特征与治疗前景[J].国际神经病学神经外科学杂志,2026,53(1):76-80,5.
