腓骨肌萎缩症1D一家系的临床、电生理和基因研究

Clinical, electrophysiological and genetic features in a family with Charcot-Marie-Tooth disease type 1D

目的 观察腓骨肌萎缩症（CMT） 1D家系的临床、电生理和基因的特点.方法 先证者为53岁男性,15岁发现高弓足,约37岁出现双下肢无力,50岁左右双下肢无力加重伴麻木.其女儿青少年期出现高弓足,18岁出现双下肢无力.对先证者进行电生理检查和基因二代测序分析.结果 先证者电生理检查提示周围神经脱髓鞘性改变,脑干听觉诱发电位提示双侧Ⅰ波分化差,Ⅲ、V波潜伏期延长,但双侧Ⅲ-V峰间潜伏期正常.先证者及其女儿存在早期生长反应蛋白2基因Arg381 Cys突变.结论 Arg381 Cys突变所致CMT1D可在青少年期以下肢无力为首发症状,临床症状较轻,病情进展缓慢.

Objective To report the clinical,electrophysiological and genetic features in a family with Charcot-Marie-Tooth disease type 1D （CMT1 D）.Methods The proband,a 53-year-old man who was found with pes cavus when he was 15 years old,presented with weakness in both lower limbs at the age of 37,aggravated and numbness in legs at the age of 50.His daughter was confirmed pes cavus in her teens and weakness in both lower limbs at the age of 18.Electrophysiology and next generation sequencing were performed in the proband.Results Electrophysiological results of the proband showed demyelinating change in motor and sensory nerves.Latency prolongation was found in bilateral waves Ⅲ,V and abnormal differentiation in bilateral waves Ⅰ of brainstem auditory evoked potential,while both interpeak latencics of Ⅲ-Ⅴ were normal.DNA analysis revealed a heterozygous 1141C 〉 T mutation in exon 1 of early growth response 2 （EGR2） gene in both of the proband and his daughter.Conclusions The onset age of Arg381Cys mutation in EGR2 gene could be at juvenile with weakness in both lower limbs.The phenotype of CMT1D is mild and progressive slowly.