脊髓小脑共济失调各亚型致病基因及临床表现

脊髓小脑共济失调(SCAs)是一种严重致残、致死的神经系统遗传变性疾病,具有高度的临床异质性和遗传异质性.根据致病基因定位的不同,分为不同的亚型.SCAs通常以进行性共济失调为主要临床特征,临床诊断的难点在于各个亚型的临床表现之间相互重叠,因此将各型特有的临床表现、致病基因进行系统综述,有助于通过常见的临床表现对各亚型进行临床初诊,也使基因检测更具有针对性.

The causative gene and clinical features of various subtypes of spinocerebellar ataxia

Spinocerebellar ataxia (SCAs) is a series of degenerative diseases of the nervous system that lead to disability and death,and has high clinical and genetic heterogeneity.According to different loci of the causative genes,SCAs can be divided into different subtypes.In general,progressive ataxia is the main clinical features of SCAs.The difficulty of clinical diagnosis is the overlapping of the clinical manifestations between various subtypes.Thus,systematically reviewing the unique clinical manifestations and causative genes of the subtypes of SCAs here will be beneficial to the initial clinical diagnosis and to targeting the gene sequencing accurately.