上海交通大学学报（医学版）

上海交通大学学报（医学版） ›› 2017, Vol. 37 ›› Issue (11): 1552-.doi: 10.3969/j.issn.1674-8115.2017.11.018

• 综述 • 上一篇    下一篇

常染色体显性遗传性痉挛性截瘫遗传学进展

詹飞霞，曹立   

  1. 上海交通大学 医学院附属瑞金医院神经内科，神经病学研究所，上海 200025
  • 出版日期:2017-11-28 发布日期:2018-01-10
  • 作者简介:詹飞霞（1992—），女，硕士生；电子信箱：zfx@rjlab.cn
  • 基金资助:
    国家自然科学基金（81571086）；上海市教育委员会高峰高原学科建设计划（20161401）；上海交通大学医工（理）交叉基金（YG2016MS64）

Progress in genetics of autosomal dominant hereditary spastic paraplegia

ZHAN Fei-xia, CAO Li   

  1. Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
  • Online:2017-11-28 Published:2018-01-10
  • Supported by:
    National Natural Science Foundation of China, 81571086; Shanghai Municipal Education Commission—Gaofeng Clinical Medicine Grant Support, 20161401; Biomedical Engineering Cross Research Foundation of Shanghai Jiao Tong University, YG2016MS64

PDF (PC)

1406

摘要： 遗传性痉挛性截瘫（HSP）是一类具有显著临床和遗传异质性的神经系统退行性疾病，临床主要表现为缓慢进展的双下肢无 力和痉挛所致的步态异常或障碍。临床上，根据遗传方式可分为常染色体显性遗传、常染色体隐性遗传、X 连锁隐性遗传和线粒体母 系遗传。根据临床表型的复杂与否，可分为单纯型和复杂型。至今 HSP 已发现或报道了 78 个致病基因相关位点，59 个致病基因已被 克隆；常染色体显性 HSP 已发现 20 个致病基因相关位点，13 个致病基因已被克隆。该文就常染色体显性 HSP 的遗传学特征及研究 进展进行综述。

关键词: 痉挛性截瘫, 遗传学, 常染色体显性遗传, 致病突变

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.

Key words: spastic paraplegia, genetics, autosomal dominant inheritance, pathogenic mutation

中图分类号: