Advances in the hereditary spastic paraplegias
Advances in the hereditary spastic paraplegias
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DOI：
10.1016/j.expneurol.2003.08.005
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发表时间：
2003-11-01
影响因子：
5.3
通讯作者：
Fink, JK
中科院分区：
文献类型：
--
作者：
Fink, JK
本文综述了遗传性痉挛性截瘫（HSP）的遗传学研究进展，HSP是一组不同的遗传性疾病，其主要症状是由于下肢痉挛性无力而导致的渐进性行走困难。已发现20个HSP位点和9个HSP基因。这一进展为这些临床相似疾病的不同分子发病机制提供了新的见解。(C)2003年爱思唯尔公司All rights reserved.
This review summarizes advances in understanding the genetics of the hereditary spastic paraplegias (HSPs), a diverse group of inherited disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity spastic weakness. Twenty HSP loci and nine HSP genes have been discovered. This progress has yielded new insights into the diverse molecular pathogenesis that underlies these clinically similar disorders. (C) 2003 Elsevier Inc. All rights reserved.