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[伴有远端肌萎缩的遗传性痉挛性截瘫的分子遗传学研究——最新进展]

[Molecular genetics study of hereditary spastic paraplegia accompanied by distal amyotrophy-an update].

作者信息

Wang Zhen-zhen, Cen Zhi-dong, Luo Wei

机构信息

Department of Neurology, the Second Affiliated Hospital, Zhejiang University, Hangzhou, Zhejiang 310009, P. R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):429-34. doi: 10.3760/cma.j.issn.1003-9406.2013.04.011.

Abstract

Hereditary spastic paraplegia(HSP or SPG) is a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity, weakness of lower limbs, and pathologically by retrograde axonal degeneration of corticospinal tracts and posterior spinal tracts. Presence of additional features allows differentiation between simple and complex forms of the disease. Genetically, 16 loci for HSP accompanied by distal amyotrophy have been mapped, for which 13 genes have been identified. With the identification of causative genes, the molecular mechanism of this disease is gradually elucidated.

摘要

遗传性痉挛性截瘫(HSP或SPG)是一组临床和遗传异质性的神经退行性疾病,其特征为进行性痉挛、下肢无力,病理表现为皮质脊髓束和脊髓后束的逆行性轴索变性。附加特征的存在有助于区分该疾病的单纯型和复杂型。在遗传方面,已定位了16个伴有远端肌萎缩的HSP基因座,其中已鉴定出13个基因。随着致病基因的鉴定,该疾病的分子机制逐渐得以阐明。

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