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遗传性痉挛性截瘫:临床原理与遗传学进展

Hereditary spastic paraplegia: clinical principles and genetic advances.

作者信息

Fink John K

机构信息

Department of Neurology, University of Michigan; Ann Arbor Veterans Affairs Medical Center, Ann Arbor, Michigan.

出版信息

Semin Neurol. 2014 Jul;34(3):293-305. doi: 10.1055/s-0034-1386767. Epub 2014 Sep 5.

Abstract

Hereditary spastic paraplegia (HSP) refers to inherited disorders in which spastic gait is either the only feature or is a major syndrome feature. There are more than 70 genetic types of HSP. Neuropathological studies, albeit limited to only a few genetic types of HSP, have identified axon degeneration involving the distal ends of the corticospinal tracts and fasciculus gracilis fibers. In this review, the author highlights the clinical and genetic features of HSP.

摘要

遗传性痉挛性截瘫(HSP)是指遗传性疾病,其中痉挛步态要么是唯一特征,要么是主要综合征特征。HSP有70多种基因类型。神经病理学研究虽然仅限于少数几种基因类型的HSP,但已确定轴突退变涉及皮质脊髓束和薄束纤维的远端。在这篇综述中,作者重点介绍了HSP的临床和遗传特征。

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