Wang Yin-guang, Shen Lu
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):298-301. doi: 10.3760/cma.j.issn.1003-9406.2009.03.013.
The hereditary spastic paraplegias (HSPs or SPGs) are clinically and genetically highly heterogeneous neurodegenerative disorders mainly characterized by progressive spasticity and weakness in the lower limbs. The inheritance mode includes autosomal dominant(AD-HSP), autosomal recessive(AR-HSP) and X-linked recessive(XR-HSP). Thirty-five loci have been mapped with 17 disease-associated genes identified. SPG4 and SPG7 are the common subtypes in the AD-HSP and AR-HSP, respectively. The authors briefly review the function of spastin (SPG4) and paraplegin (SPG7), both of which belong to AAA ATPases family, and the recent progress of the study on the pathogenesis of HSPs.
遗传性痉挛性截瘫（HSPs 或 SPGs）是临床和遗传上高度异质性的神经退行性疾病，主要特征为下肢进行性痉挛和无力。其遗传模式包括常染色体显性遗传（AD-HSP）、常染色体隐性遗传（AR-HSP）和 X 连锁隐性遗传（XR-HSP）。已定位了 35 个位点，鉴定出 17 个疾病相关基因。SPG4 和 SPG7 分别是 AD-HSP 和 AR-HSP 中的常见亚型。作者简要回顾了痉挛蛋白（SPG4）和 paraplegin（SPG7）的功能，二者均属于 AAA ATP 酶家族，以及 HSPs 发病机制研究的最新进展。
