Hereditary Spastic Paraplegia: Clinical Principles and Genetic Advances
Hereditary Spastic Paraplegia: Clinical Principles and Genetic Advances
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DOI：
10.1055/s-0034-1386767
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发表时间：
2014-07-01
影响因子：
2.7
通讯作者：
Fink, John K.
中科院分区：
文献类型：
--
作者：
Fink, John K.
遗传性痉挛性截瘫（HSP）是指遗传性疾病，其中痉挛性步态是唯一的特征或是主要的综合征特征。HSP有70多种遗传类型。神经病理学研究，虽然仅限于少数遗传类型的HSP，已确定轴突变性涉及远端的皮质脊髓束和薄束纤维。本文就HSP的临床和遗传特点作一综述。
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.