Fink J K
Department of Neurology and Geriatric Research, University of Michigan, Ann Arbor 48109-0642, USA.
Curr Opin Neurol. 1997 Aug;10(4):313-8. doi: 10.1097/00019052-199708000-00006.
Hereditary spastic paraplegia refers to a group of clinically similar disorders whose primary feature is insidiously progressive lower extremity weakness and spasticity. Hereditary spastic paraplegia is genetically diverse: loci for autosomal recessive (chromosome 8p), autosomal dominant (chromosome 2p, 14q, and 15q), and x-linked hereditary spastic paraplegia have been identified. The existence of hereditary spastic paraplegia families for whom the disorder is unlinked to these loci indicates the existence of additional, as yet undiscovered, hereditary spastic paraplegia loci. Hereditary spastic paraplegia exhibits axonal degeneration that is maximal at the terminal portions of the longest central nervous system axons. Efforts to positionally clone the hereditary spastic paraplegia gene are in progress.
遗传性痉挛性截瘫是指一组临床症状相似的疾病，其主要特征是隐匿性进行性下肢无力和痉挛。遗传性痉挛性截瘫在遗传上具有多样性：已确定常染色体隐性遗传（8号染色体短臂）、常染色体显性遗传（2号、14号和15号染色体）以及X连锁遗传性痉挛性截瘫的基因位点。有些遗传性痉挛性截瘫家族的疾病与这些基因位点无关，这表明还存在其他尚未发现的遗传性痉挛性截瘫基因位点。遗传性痉挛性截瘫表现为轴突退化，在最长的中枢神经系统轴突末端最为明显。目前正在努力通过定位克隆来寻找遗传性痉挛性截瘫基因。
