遗传性痉挛性截瘫(HSP)又称家族性痉挛性截瘫,是一组在临床上和遗传学上变异很大的疾病,其基本临床表现通常是严重的进行性下肢痉挛状态。HSP的分类主要依据遗传方式(常染色体显性遗传、常染色体隐性遗传及性连锁遗传)及上述症状是单独出现(单纯型)抑或伴有视神经病、视网膜病、锥体外系统损害、痴呆、共济失调、皮肤鳞癣、精神发育迟滞及耳聋等其他神经系统异常(复杂型)。近年来,应用基因连锁分析技术已证实了5个HSP基因位点,它们分别位于2号染色体短臂、14号染色体长臂、15号染色 Hereditary spastic paraplegia (HSP), also known as familial spastic paraplegia, is a group of clinically and genetically variant diseases, the basic clinical manifestations are usually severe progressive lower extremity spasticity. The classification of HSP is mainly based on the genetic mode (autosomal dominant, autosomal recessive and sex linked) and the above symptoms are solitary (simple type) or with optic neuropathy, retinopathy, extrapyramidal system damage, dementia, Ataxia, ichthyosis, mental retardation and deafness and other nervous system disorders (complex type). In recent years, the application of genetic linkage analysis has confirmed five HSP gene loci, which are located on chromosome 2 short arm, chromosome 14 long arm, No. 15 staining