关键词: 痉挛性截瘫, 遗传性, 遗传变性障碍, 神经系统, 基因, 突变

Abstract: Hereditary spastic paraplegia （ＨＳＰ） is a group of neurodegenerative disorders with clinical and genetic heterogeneity. The main clinical feature is the progressive spasticity of lower limbs and myasthenia. HSPs are clinically divided into types: simple type and complicated form, the later with additional manifestations of more extensively neurological or non-neurological disorders. In genetics, HSPs are divided into four groups as follows: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits, according to the inheritance modes. About 60 genetic subtypes have been described. With in-depth research on HSP, many new causative genes have been identified. We systematically reviewed the progress of HSPs, mainly including genotype and the corresponding clinical manifestations, for physicians to precisely identify the subtypes of HSP and to diagnose in genetics.

Key words: Spastic paraplegia, hereditary, Heredodegenerative disorders, nervous system, Genes, Mutation