遗传性痉挛性截瘫（HSP）是一类具有显著临床和遗传异质性的神经系统退行性疾病，临床主要表现为缓慢进展的双下肢无 力和痉挛所致的步态异常或障碍。临床上，根据遗传方式可分为常染色体显性遗传、常染色体隐性遗传、X 连锁隐性遗传和线粒体母 系遗传。根据临床表型的复杂与否，可分为单纯型和复杂型。至今 HSP 已发现或报道了 78 个致病基因相关位点，59 个致病基因已被 克隆；常染色体显性 HSP 已发现 20 个致病基因相关位点，13 个致病基因已被克隆。该文就常染色体显性 HSP 的遗传学特征及研究 进展进行综述。

Hereditary spastic paraplegia (HSP) is a group of significantly clinically and genetically heterogeneous neurodegenerative disorders, which are predominantly characterized by progressive lower limbs weakness and spasticity inducing gait abnormalities or disorders. In practice, based on the modes of inheritance, it can be divided into autosomal dominant, autosomal recessive, X-linked and mitochondrial maternal inheritance. According to whether the clinical manifestations complicated or not, HSP can be divided into pure and complex form. To date, mutations in 78 distinct loci and 59 mutated gene products have been identified or reported in patients with HSP; among them 20 distinct loci and 13 mutated gene products have been found in autosomal dominant spastic paraplegia. This is a review about the genetic characteristics and research progress of autosomal dominant HSP.