经基因确诊的遗传性压力易感性周围神经病的临床与神经电生理分析  

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

作　　者：江小琳[1] 周瑞玲[1] 

机构地区：[1]福建省立医院神经内科,福建福州350001

出　　处：《癫痫与神经电生理学杂志》2016年第5期260-262,共3页Journal of Epileptology and Electroneurophysiology(China)

摘　　要：目的：探讨遗传性压力易感性周围神经病（HNPP）的临床、神经电生理及基因特点，为该病的诊断提供依据。方法：对3例患者进行临床特点总结、行电生理检查和基因检测。结果：3例患者均表现为无痛性下肢远端无力。电生理检查示四肢广泛神经传导速度减慢。基因检测示3例患者均存在周围髓鞘蛋白22（PMP22）基因缺失突变。结论：HNPP多以神经易卡压部位发病，表现为受累神经支配区的运动感觉异常，神经电生理表现为广泛神经脱髓鞘损伤，基因检测能确诊。Objective：To study the clinical and electrophysiological features of patients with heredi tary neuropathy with liability to pressure palsy（HNPP） diagnosed by gene analysis. Methods： Three pa- tients were assessed with the clinical characteristics, electrophysiology findings and gene analysis. Re- sults： Three patients had clinical manifestation of painless and weak distal lower limbs. Electrophysiology study revealed that the nerve conduction velocities were slow. Gene studies exhibited a deletion of the pe- ripheral myelination protein 22（PMP22）gene in three patients. Conclusion： HNPP usually affects the areas where nerves are subject to entrapment,and presents with motor and sensory disturbances of the innerva ted areas. Eleetrophysiology shows general nervous demyelination. Genetic analysis can clarify the diagno- sis of HNPP.

关 键 词：遗传性压力易感性周围神经病 神经电生理 基因检测 

分 类 号：R745[医药卫生—神经病学与精神病学]