Progress in genetics of autosomal dominant hereditary spastic paraplegia
10.3969/j.issn.1674-8115.2017.11.018
- VernacularTitle:常染色体显性遗传性痉挛性截瘫遗传学进展
- Author:
xia Fei ZHAN
1
;
Li CAO
Author Information
1. 上海交通大学 医学院附属瑞金医院神经内科
- Keywords:
spastic paraplegia;
genetics;
autosomal dominant inheritance;
pathogenic mutation
- From:
Journal of Shanghai Jiaotong University(Medical Science)
2017;37(11):1551-1556
- CountryChina
- Language:Chinese
-
Abstract:
Hereditary spastic paraplegia (HSP) is a group of significantly clinically and genetically heterogeneous neurodegenerative disorders, which are predominantly characterized by progressive lower limbs weakness and spasticity inducing gait abnormalities or disorders. In practice, based on the modes of inheritance, it can be divided into autosomal dominant, autosomal recessive, X-linked and mitochondrial maternal inheritance. According to whether the clinical manifestations complicated or not, HSP can be divided into pure and complex form. To date, mutations in 78 distinct loci and 59 mutated gene products have been identified or reported in patients with HSP; among them 20 distinct loci and 13 mutated gene products have been found in autosomal dominant spastic paraplegia. This is a review about the genetic characteristics and research progress of autosomal dominant HSP.
