腓骨肌萎缩症的神经电生理及基因特点

Characteristics of Electrophysiological and Genetic of Charcot-Marie-Tooth

目的探讨腓骨肌萎缩症(CMT)的神经电生理及基因特点。方法选取2014年1月至2019年12月于福建省立医院被确诊的15例CMT患者的神经电生理及基因特点进行回顾性分析。结果 15例患者中有14例进行了神经传导检查,正中神经运动神经传导速度(MNCV)为17.20~54.80 m/s,末端潜伏期为3.20~14.10 ms;尺神经有2例在肘部刺激未引出,余12例MNCVs为14.10~66.60 m/s,末端潜伏期为2.50~12.50 ms。肌电图检查结果均显示为慢性神经源性损害。4例为PMP22基因存在重复突变,1例PHTKD1基因存在杂合缺失突变,1例MPZ基因发现1处可能致病突变。结论 CMT下肢周围神经受累较上肢严重,感觉纤维受累较运动纤维严重,肌电图多表现为慢性神经源性改变。最常见的为PMP22基因重复所致的CMT 1A亚型。

Objective To describe the characteristics of electrophysiological and genetic of Charcot-Marie-Tooth(CMT).Methods Retrospective analysis of electrophysiological and genetic characteristics of 15 patients with CMT diagnosed in our hospital from January 2014 to December 2019.Results Nerve conduction was performed in 14 of the 15 patients,for the median,MNCVs ranged from 17.20 to 54.80 m/s and MDL ranged from 3.20 to 14.10 ms.Ulnar nerve stimulation in the elbow was not elicited in 2 cases,the other 12 cases motor nerve conduction velocity(MNCV)ranged from 14.10 to 66.60 m/s and MDL ranged from 2.20 to 12.50 ms.EMG showed chronic neurogenic lesions.There were 4 cases of repeated mutation of PMP22 gene.There was heterozygous deletion mutatio n in PHTKD1 gene in 1 case.A possible pathogenic mutation in the MPZ gene was found in 1 case.Conclusion CMT peripheral nerve involvement was more serious than that of upper limb,and sensory fi ber involvement was more serious than that of motor fi ber.Most electromyograms showed chronic neurogenic changes.The most common CMT is CMT 1A subtype caused by duplication of PMP22 gene.