摘要
目的:探讨因GJB1基因突变导致的腓骨肌萎缩症X1型(CMTX1)中国汉族患者的神经电生理特点和病理特征,并进一步分析病理类型与神经电生理间关系。方法:对12个家系经过测序证实为GJB1点突变的35例CMTX1患者的电生理结果进行回顾性分析,对其中来自4个不同家系4例患者进行腓肠神经活检,行超微电镜观察。结果:GJB1基因突变CMTX1患者35例,存在运动神经传导速度(MNCV)的轻、中度减慢,CMAP波幅的减低较MNCV减慢更明显。4例患者腓肠神经病理改变均存在有髓神经纤维数量减少,丛性结构,轴索外髓鞘内间隙,未见典型洋葱头样结构。即为轴索病变同时伴有脱髓鞘病变,且以轴索病变为主。结论:GJB1基因突变的CMTX1表现为中间型,且以轴索病变为主,神经电生理及病理结果表现具有一致性。
Objective: To investigate the electrophysiological characteristics and pathological changes of Chinese Han CMTX1 Patients with GJB1 point mutations, and to analyze the relationship between pathological type and neurophysiology. Methods: Thirty-five patients from 12 families were sequenced CMTX1 patients with GJB1 point mutations which analyzed for electrophysiological evaluation. Four patients from four different families were subjected to sural nerve biopsy and analyzed by electron microscopy. Results: There were 35 cases of CMTX1 patients with GJB1 point mutations, and the amplitude of CMAP was decreased, which was significantly lower than that of MNCV. Electron microscopic examination of neurological biopsy in 4 cases showed that numbers of myelinated nerve fibers decreased,more cluster formations, axonal neuropathy. Conclusion: Electrophysiological finding support primary axonal neuropathy. in CMTX1 with GJB1 mutations. Pathological findings are axonal neuropathy accompanied by demyelinating lesions, mainly for axonal neuropathy. Electrophysiological and pathological analysis results are consistent.
作者
李琳
张如旭
LI Lin;ZHANG Ru-xu(Departmentof Neurology, Wuhan Third Hospital (Tongren Hospital of Wuhan University), Wuhan 443000, China;Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China)
出处
《神经损伤与功能重建》
2019年第3期128-131,共4页
Neural Injury and Functional Reconstruction
