经基因诊断的遗传性压力易患性周围神经病的临床与电生理分析  

Analysis of clinical and electrophysiological features in patients with hereditary neuropathy with liability to pressure palsy diagnosed by gene analysis

作　　者：姜良军[1] 张士孟[1] 亓法英[1] 陆玉成[2] 车峰远[1] 

机构地区：[1]山东省临沂市人民医院神经内科,276000 [2]山东省临沂市人民医院中心实验室,276000

出　　处：《中华神经科杂志》2016年第2期93-97,共5页Chinese Journal of Neurology

摘　　要：目的研究经基因诊断的遗传性压力易患性周围神经病（HNPP）的临床及电生理特点。方法对2个家系7例患者进行详细的病史询问、神经科体检、神经电生理及基因检测。结果典型HNPP的临床表现为急性、无痛的周围神经麻痹反复发作。常见的受损神经为正中神经、尺神经和腓总神经。电生理检查示末端运动潜伏期的延长和神经传导速度的减慢最为明显。基因检测表明所有7例患者均存在周围髓鞘蛋白22基因缺失。结论HNPP一般于易受压部位起病，其发作可由受累神经轻微受压所致；作为HNPP可靠的筛查工具，电生理检查显示节段性脱髓鞘最常出现在神经易卡压位置。Objective To study the clinical and electrophysiological features of the patients with hereditary neuropathy with liability to pressure palsy （HNPP） diagnosed by gene analysis. Methods Seven patients from two HNPP families were assessed on medical history, physical examination, electrophysiology findings and gene analysis. Results A clinical manifestation of acute, painless, recurrent peripheral nerve palsies was typical for HNPP. Median, ulnar and peroneal nerves were usually affected. Electrophysiology study revealed that prolonged distal motor latency and slowing nerve conduction velocity were prominent. Gene studies exhibited a deletion of the peripheral myelination protein 22 gene in all the seven patients. Conclusions HNPP usually affects areas where nerves are subject to entrapment, and many episodes are preceded by minor compression on the affected nerve. As a reliable screening tool in detecting HNPP, the electrophysiological study shows that segmental demyelination is most commonly seen at common nerve entrapment sites.

关 键 词：遗传性感觉和运动神经病 髓磷脂蛋白质类 基因缺失 电生理学 聚合酶链反应 

分 类 号：R745[医药卫生—神经病学与精神病学]