PMP22相关性周围神经病的临床及遗传学特点  

Clinical and genetic characteristics of PMP22-associated peripheral neuropathy

作　　者：朱啸巍 钟平[1] 栾兴华 ZHU Xiaowei;ZHONG Ping;LUAN Xinghua(Suzhou Hospital of Anhui Medical University,Suzhou 234000,China;Shanghai JiaoTong University Affiliated Sixth People's Hospital,Shanghai 200233,China)

机构地区：[1]安徽医科大学附属宿州医院,宿州安徽234000 [2]上海交通大学附属第六人民医院,上海200233

出　　处：《中国实用神经疾病杂志》2021年第14期1265-1270,共6页Chinese Journal of Practical Nervous Diseases

基　　金：国家自然科学基金(编号:81870889);广慈青年基金(编号:GCQN-2017-A03)。

摘　　要：周围髓鞘蛋白22基因(peripheral myelin protein-22,PMP22)相关性周围神经病是一组以PMP22基因突变导致的遗传性周围神经病,不同的突变类型是导致不同的临床表型的关键,大致可以分为五类:PMP22片段重复突变导致腓骨肌萎缩症1A型(Charcot-Marie-Tooth type-1A,CMT1A),PMP22缺失突变所致遗传性压迫易感性神经病(hereditary neuropathy with liability to pressure palsies,HNPP),PMP22基因点突变可引起CMT1E以及Dejerine-Sottas综合征(DSS)、Roussy-Levy综合征(RLS)等。本文就PMP22基因相关性周围神经病的临床及遗传学特点做一综述。PMP22-associated peripheral neuropathy is a group of inherited peripheral neuropathy caused by mutations in PMP22 gene.Different types of mutations are the key factors leading to different clinical phenotypes,which can be roughly divided in⁃to fine categories:Charcot-Marie-Tooth type-1A(CMT1A)with duplication of PMP22,hereditary neuropathy with liability to pres⁃sure palsies(HNPP)with deletions of PMP22,CMT1E with point mutations of PMP22,Dejerine-Sottas syndrome,and Roussy-Levy syndrome.Here,we review the clinical and genetic characteristics of PMP22-associated peripheral neuropathy.

关 键 词：周围髓鞘蛋白22基因(PMP22) 腓骨肌萎缩症1A型(CMT1A) 遗传性压迫易感性神经病(HNPP) Dejerine-Sottas综合征(DSS) Roussy-Levy综合征(RLS) 

分 类 号：R745[医药卫生—神经病学与精神病学]