国家神经系统疾病临床医学研究中心数据管理与共享系统
Data Management And Sharing System of China National Clinical Research Center for Neurological Diseases
A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D.
第一作者：bin chen
通讯作者：zaiqiang zhang
2018-04-30
已发表文章
发表杂志：Journal of Clinical Neuroscience
发表类型: Original Contributions
影响因子(IF): 1.961
PMID: 29724652 Pubmed原文链接 全文下载
主要研究背景及目的
Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe peripheral neuropathy and deafness. It is caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1).
方法
We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry.
结论
Q185X of NDRG1 is a novel mutation with CMT4D, which are demonstrated in Asian population. Q185X of the NDRG1 expands the clinical and mutational spectrum of CMT4D.
主要结果
The patient presented with a 15-year-long history of progressive limb weakness accompanied by hearing loss and dysarthria. There was abnormal differentiation and increased interpeak latencies in brainstem auditory evoked potentials. Compound muscle action potentials (CMAP) of the peripheral nerves were not elicited in distal segments, while prolonged distal latencies and decreased CMAP were present in proximal nerves. A mild enlargement of the lateral ventricles showed in brain magnetic resonance imaging studies