经基因诊断的遗传性压力易感性神经病的临床及电生理特点  

Clinical and electrophysiology feature in gene diagnostic patients with hereditary neuropathy with liability to pressure palsy

作　　者：宋春莉[1] 王哲[1] 王楠[2] 周丽娜[1] 孙大勇[1] 刘丽波[2] 

机构地区：[1]大连医科大学附属第一医院神经内科,辽宁大连116011 [2]大连医科大学附属第一医院检验科,辽宁大连116011

出　　处：《中风与神经疾病杂志》2012年第7期610-612,共3页Journal of Apoplexy and Nervous Diseases

基　　金：辽宁省科技厅社会发展攻关计划资助项目(2011225013);大连市科技局资助项目(2011E15SF123)

摘　　要：目的观察经基因检测的遗传性压力易感性神经病(HNPP)的临床及神经电生理变化特点。方法评估6个家系12例HNPP患者的病史、体格检查、电生理及PMP22基因检测资料。结果男4例,女8例,年龄10～52岁;表现为反复发作的易卡压周围神经受到轻微牵拉或压迫后出现运动感觉障碍;神经电生理检查示广泛神经传导异常,其中以尺神经、正中神经传导减慢发生率高;HNPP患者的PMP22基因起始拷贝数值波动于0.16～0.38之间,低于正常对照组(0.45～1.68)。结论 HNPP多数以易受压部位起病,表现无力麻木症状;电生理检查对HNPP的诊断有重要意义,特点主要为弥漫性神经传导速度减慢;基因检测提示国人HNPP的常见病因是PMP22缺失。Objective To observe clinical and electrophysiology feature in gene diagnostic patients with hereditary neuropathy with liability to pressure palsy（HNPP）. Methods Twelve patients from six HNPP families were assessed on clinical features, physical examination, electrophysiology findings and peripheral myelin protein 22 （ PMP＇22 ） gene determina- tion. Results Four male and eight female patients, mean age of 28.1 years （range 10-52）, showed recurrent palsies or sensory disturbances after minor trauma to peripheral nerves vulnerable to compression. Electrophysiology study revealed general reduction of nerve conduction, especially in ulnar and median nerve. The copy number of the PMP22 gene in HNPP patients ranged from 0.16 to 0.38 ,less than that of normal controls（ ranged from 0.45 to 1.68）. Conclusion HNPP pa- tients usually present with numbness or weakness localized around areas of entrapment at first attack. Electrophysiological study is a reliable method of diagnosis for HNPP and characterized by diffuse diminished nerve conduction velocities. Gene detection suggests PMP22 deletion was the common cause of HNPP patient in Chinese.

关 键 词：遗传性周围神经病 压力易感性 电生理 周围髓鞘蛋白22基因 基因诊断 

分 类 号：R745[医药卫生—神经病学与精神病学]