摘要遗传性痉挛性截瘫(hereditary spastic paraplegia, HSP)是一组缓慢进展的以双下肢肌张力增高、痉挛步态和肌无力为主要特征的单基因神经系统退行性遗传病，具有高度的临床和遗传异质性。该病发病率低，基因检测为诊断的金标准，迄今为止已报道了70多个致病基因和80多个致病基因相关位点。在所有HSP类型中，以 SPAST基因突变所致的遗传性痉挛性截瘫4型(hereditary spastic paraplegia type 4，SPG4)最常见。随着医疗水平的不断提高，人们对SPG4的发病机制、临床特征和诊治等方面的研究日渐深入，现综述如下。

abstractsHerediatry spastic paraplegia(HSP) is a group of monogenic and degenerative hereditary disorders of the nervous system characterized by progressive increase of muscle tension, spastic gait and weakness of both lower limbs, with high clinical and genetic heterogeneity.The incidence of this disease is low, and gene detection is the gold standard for diagnosis.So far, more than 70 mutated genes and mutations in 80 distinct loci have been reported.And the hereditary spastic paraplegia type 4(SPG4)caused by SPAST gene mutation is the most common type among them.With the continuous improvement of medical standards, the research on its pathogenic mechanism, clinical characteristics, diagnosis and treatment is becoming more and more in-depth, this article is as follows.