脊髓小脑共济失调
共济失调
基因
临床诊断
医学
遗传学
生物
神经科学
儿科
作者
Jianping Song,Dan Yang,Tao Chen,Haijiang Li
出处
期刊:Int J Genet
日期:2016-04-15
卷期号:39 (2): 85-89
标识
DOI:10.3760/cma.j.issn.1673-4386.2016.02.006
摘要
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.
Key words:
Spinocerebellar ataxia; Causative gene; Clinical features; CAG
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