经基因诊断确诊的遗传性压迫易感性神经病临床特点分析  

Analysis of the clinical characteristics of HNPP patients diagnosed by gene diagnosis

作　　者：张付峰[1] 唐北沙[1] 严新翔[1] 江泓[1] 沈璐[1] 夏昆[2] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]中国医学遗传学国家重点实验室

出　　处：《中华神经科杂志》2006年第7期440-443,共4页Chinese Journal of Neurology

基　　金：国家自然科学基金资助项目(30300200);国家"863"高科技研究计划基金资助项目(2004AA227040)

摘　　要：目的研究经基因诊断确诊的遗传性压迫易感性神经病(hereditary neuropathy with liability to pressure palsies,HNPP)患者的临床特点和电生理特征。方法对来自4个家系的5例HNPP患者进行基因诊断,并总结患者的临床特点,同时分析其电生理特征,包括肌电图(EMG)、运动神经传导速度(MCV)和感觉神经传导速度(SCV)。结果5例患者均存在周围髓鞘蛋白22 (peripheral myelination protein 22,PMP22)基因缺失。HNPP临床主要表现为反复发作的肢体麻木、无力,神经传导存在广泛异常。结论电生理检查对HNPP的诊断很重要,基因检测发现PMP22基因缺失是诊断HNPP的金标准。Objective To analyze the clinical and electrophysiological characteristics of HNPP patients diagnosed by gene diagnosis. Methods The clinical characteristics of 5 patients from 4 different HNPP families were summarized. The electrophysiological characteristics including EMG, motor conduction velocity （MCV） and sensory conduction velocity （SCV） were analyzed. Results Recurrent limb numbness and weakness were the main characteristics of HNPP. The nerve conduction velocities were slow. The PMP22 gene deletion was found in all the 5 HNPP patients. Conclusions Electrophysiological examination is an important method for the diagnosis of HNPP. The PMP22 gene deletion detected by gene diagnosis is the golden criterion for the diagnosis of HNPP.

关 键 词：遗传性运动和感觉性神经病 膜蛋白质类 基因缺失 

分 类 号：R741[医药卫生—神经病学与精神病学]