遗传性痉挛性截瘫临床诊治与基因分型

Diagnosis and Treatment of Hereditary Spastic Paraplegia and Genomic Typing

遗传性痉挛性截瘫(hereditary spastic paraplegia,HSP)是一种神经系统的退行性病变,具有明显的遗传异质性,主要的临床特征表现为双下肢进行性痉挛和肌无力。根据临床表现可分为单纯型和复杂型2种,复杂型通常合并更广泛的神经或非神经系统表现。根据遗传类型分为:常染色体显性遗传,常染色体隐性遗传,X-连锁遗传和母系遗传,到目前为止已发现的亚型近60种。综述该领域的最新研究进展,主要包括基因分型及临床表现,便于临床医生在高度怀疑某种特定类型时,能准确地对患者进行亚型预判,有利于进一步的基因学诊断。

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 nonneurological 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.