遗传性痉挛性截瘫：已发现九个基因且数量仍在增加。
The hereditary spastic paraplegias: nine genes and counting.
作者信息
Fink John K
机构信息
Department of Neurology, University of Michigan, 5214 Cancer Geriatrics Center Bldg., Box 0940, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USA.
出版信息
Arch Neurol. 2003 Aug;60(8):1045-9. doi: 10.1001/archneur.60.8.1045.
The hereditary spastic paraplegias (HSPs) are inherited neurologic disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity weakness and spasticity. There have been great strides in our knowledge of this group of disabling disorders; 20 HSP loci and 9 HSP genes have been discovered. Insights into the molecular causes of HSPs are beginning to emerge. This review summarizes these advances in HSPs' genetics.
遗传性痉挛性截瘫（HSPs）是一类遗传性神经系统疾病，其主要症状是由于下肢无力和痉挛导致行走困难逐渐加重。我们对这组致残性疾病的认识取得了巨大进展；已经发现了20个HSP基因座和9个HSP基因。对HSPs分子病因的认识也开始显现。本综述总结了HSPs遗传学方面的这些进展。
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