CAJ | 학술논문

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。
유전성경련성절탄（hereditary spastic paraplegia，HSP）시일충신경계통적퇴행성병변，구유명현적유전이질성，주요적림상특정표현위쌍하지진행성경련화기무력。근거림상표현가분위단순형화복잡형2충，복잡형통상합병경엄범적신경혹비신경계통표현。근거유전류형분위：상염색체현성유전，상염색체은성유전，X-련쇄유전화모계유전，도목전위지이발현적아형근60충。종술해영역적최신연구진전，주요포괄기인분형급림상표현，편우림상의생재고도부의모충특정류형시，능준학지대환자진행아형예판，유리우진일보적기인학진단。
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.