腓骨肌萎缩症1D一家系的临床、电生理和基因研究
Chinese Journal of Neurology（2015）
Abstract
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.
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Key words
Charcot-Marie-Tooth disease,Pedigree,Early growth response protein 2,Evoked potentials,auditory,brain stem,High-throughput nucleotide sequencing
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