伴有中枢神经系统受累的CMTX1的研究进展  

Research progress of CMTX1 with central nervous system involvement

作　　者：王萌 贺慧芬 郭爱红 张瑶 丁江博 李杰 刘越 王丙聚 WANG Meng;HE Huifen;GUO Aihong;ZHANG Yao;DING Jiangbo;LI Jie;LIU Yue;WANG Bingju(Xianyang Hospital of Yan'an University,Xianyang 712000;Meishan Cardio Cerebrovascular Disease Hospital,Meishan 620000,China)

机构地区：[1]延安大学咸阳医院,陕西咸阳712000 [2]眉山心脑血管病医院,四川眉山620000

出　　处：《临床医学研究与实践》2021年第4期193-195,共3页Clinical Research and Practice

摘　　要：腓骨肌萎缩症(CMT)是一组影响周围神经系统运动和感觉神经的遗传性疾病。X连锁腓骨肌萎缩症(CMTX1)是由位于染色体q13.1上编码Cx32的GJB1基因突变引起的,主要表现为进行性肌肉无力和萎缩。但近期研究发现,CMTX1可引起中枢神经系受累和可逆性脑白质损害。本文对CMTX1的中枢神经系统表现、可能的发病机制、辅助检查及治疗和预防方法作一综述,旨在为CMT患者的识别及诊治提供参考。Charcot-Marie-Tooth disease(CMT)is a group of inherited diseases that affect peripheral nervous system motor and sensory nerves.X-linked Charcot-Marie-Tooth disease(CMTX1)is caused by GJB1 gene mutation encoding Cx32 on chromosome q13.1,which is characterized by progressive muscle weakness and atrophy.However,recent studies have found that CMTX1 can cause central nervous system involvement and reversible white matter damage.This article reviews the central nervous system manifestations,possible pathogenesis,auxiliang examination,treatment and prevention of CMTX1,in order to provide reference for the recognition,diagnosis and treatment of CMT patients.

关 键 词：腓骨肌萎缩症 GJB1基因 CX32 中枢神经系统 脑白质病变 进行性肌肉无力 

分 类 号：R74[医药卫生—神经病学与精神病学]