以共济失调为主要症状的SH3TC2基因复合杂合突变所致腓骨肌萎缩症4C型1例  

A case of Charcot-Marie-Tooth disease type 4C caused by heterozygous mutation of the SH3TC2 gene with ataxia as the main symptom

作　　者：齐一鸣 蒋冬悦 王子逊 李耀 张海宁[1] Qi Yiming;Jiang Dongyue;Wang Zixun;Li Yao;Zhang Haining(Department of Neurology and Neuroscience Center,the First Bethune Hospital of Jjilin University,Changchun 130021,China)

机构地区：[1]吉林大学白求恩第一医院神经内科和神经科学中心,长春130021

出　　处：《中华神经科杂志》2025年第2期169-174,共6页Chinese Journal of Neurology

基　　金：吉林大学专业学位研究生案例库建设项目(2024ALK024)。

摘　　要：腓骨肌萎缩症(CMT)是一种逐渐进展的遗传性周围神经病,其主要临床表现为对称性肢体远端肌肉进行性无力萎缩、感觉障碍、双下肢腱反射消失、弓形足、爪形手、脊柱侧弯。本文报道1个CMT4C型家系,其先证者携带SH3TC2基因的c.2782C>T和c.1586G>A复合杂合突变,主要症状为共济失调。对国内外主要数据库已报道的CMT4C型患者的相关文献进行复习,为该类患者的早期识别和诊断提供参考。Charcot-Marie-Tooth disease(CMT)is a progressive hereditary peripheral neuropathy characterized by symmetrical distal muscle atrophy,sensory impairment,disappearance of tendon reflexes in both lower limbs,arch foot,claw hand,and scoliosis.This article reports a family of CMT type 4C(CMT4C),whose proband carries a compound heterozygous mutation of c.2782C>T and c.1586G>A in the SH3TC2 gene,with ataxia as the main symptom.The literatures related to CMT4C patients in major databases at home and abroad are summarized to provide reference for early identification and diagnosis of this type of patient.

关 键 词：夏科-马里-图斯病 SH3TC2基因 共济失调 

分 类 号：R745[医药卫生—神经病学与精神病学]