关注多核苷酸重复扩展突变相关的神经遗传病

Pay attention to repeat expansion mutation related neurogenetic diseases

多核苷酸重复扩展突变相关疾病是重要的神经遗传病之一,包括亨廷顿舞蹈病、脊髓小脑性共济失调、脆性X综合征等,多核苷酸重复扩展突变是这类疾病的病因。随着分子遗传学技术的发展,这类疾病的疾病谱在不断扩大。尽管此类疾病为罕见疾病,但在临床工作中也经常碰到。文中根据最近几年的研究进展,简述了多核苷酸重复扩展突变相关疾病的定义、分类、诊断与治疗新进展。

Repeat expansion diseases(REDs),which include Huntington disease,spinocerebellar ataxia and fragile X syndrome,are important part of the neurogenetic diseases.REDs are caused by expansions of sequence repeats in the human genome.The REDs spectrum expanded rapidly with the advances of technology regarding molecular genetics in recent years.Although rare,these genetic disorders can be frequently met by neurologists.This article introduces the definition,classification,diagnosis and new progresses in treatment of REDs based on the most recent research findings.