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

VernacularTitle: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
Author: Yiming QI ¹ ; Dongyue JIANG ¹ ; Zixun WANG ¹ ; Yao LI ¹ ; Haining ZHANG ¹
Author Information

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
Publication Type:Journal Article
Keywords: Charcot-Marie-Tooth disease; SH3TC2 gene; Ataxia
From: Chinese Journal of Neurology 2025;58(2):169-174
CountryChina
Language:Chinese
Abstract: 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.