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

摘要:

脊髓小脑性共济失调4型（SCA4）是一种罕见的常染色体显性遗传性共济失调，主要表现为进行性小脑性步态障碍、平衡功能损伤及多系统神经受累。有研究显示，ZFHX3基因GGC重复扩展为其致病机制。然而，SCA4的发病机制、临床表型变异及与其他SCA亚型的差异仍不清楚，且目前治疗以对症支持为主。该综述总结了SCA4的临床特征、遗传学进展及分子机制，并探讨靶向及基因治疗等新策略，为未来精准诊疗提供参考。

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.