Molecular genetics study of hereditary spastic paraplegia accompanied by distal amyotrophy-an update.
10.3760/cma.j.issn.1003-9406.2013.04.011
- VernacularTitle:伴远端肌萎缩遗传性痉挛性截瘫的分子遗传学研究进展
- Author:
Zhen-zhen WANG
1
;
Zhi-dong CEN
;
Wei LUO
Author Information
1. Department of Neurology, the Second Affiliated Hospital, Zhejiang University, Hangzhou, Zhejiang 310009, P. R. China. luoweirock@126.com.
- Publication Type:Journal Article
- MeSH:
Brachial Plexus Neuritis;
complications;
genetics;
Genetic Heterogeneity;
Humans;
Spastic Paraplegia, Hereditary;
complications;
genetics
- From:
Chinese Journal of Medical Genetics
2013;30(4):429-434
- CountryChina
- Language:Chinese
-
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.
