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OA

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.