| 李琳
，张如旭.腓骨肌萎缩症X1型汉族患者电生理和病理特征分析[J].神经损伤功能重建,2019,14(3):128-131 |
| 腓骨肌萎缩症X1型汉族患者电生理和病理特征分析 |
| Comparative Study of Electrophysiology and Pathology of Chinese Han Patients with CMTX1 |
| |
| DOI： |
| 中文关键词: 腓骨肌萎缩症X1型 GJB1基因 神经电生理 神经病理 |
| 英文关键词: CMTX1 GJB1 gene electrophysiology pathology |
| 基金项目: |
|
| 摘要点击次数: 2897 |
| 全文下载次数: 3067 |
| 中文摘要: |
| 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。 |
| 英文摘要: |
| 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. |
|
查看全文
查看/发表评论 下载PDF阅读器 |
| 关闭 |