常染色体显性遗传性痉挛性截瘫遗传学进展

发布时间：2018-05-06 09:36

本文选题：痉挛性截瘫 + 遗传学　；参考：《上海交通大学学报(医学版)》2017年11期

【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。
[Abstract]:Hereditary spastic paraplegia (HSPs) is a class of neurodegenerative diseases with significant clinical and genetic heterogeneity. The main clinical manifestations of HSPs are gait abnormalities or disorders caused by slow progression of weakness and spasm of the lower extremities. Clinically, it can be divided into autosomal dominant inheritance, autosomal recessive inheritance, autosomal recessive X linkage recessive inheritance and mitochondrial maternal inheritance. According to the complexity of clinical phenotype, it can be divided into simple type and complex type. So far, 78 pathogenic genes have been identified or reported in HSP, 59 have been cloned, 20 have been identified by autosomal dominant HSP, and 13 have been cloned by autosomal dominant HSP. This paper reviews the genetic characteristics and research progress of autosomal dominant HSP.
【作者单位】：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;
【基金】：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)~~
【分类号】：R596.1

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