腓骨肌萎缩症1型患者肌电图及PMP22基因特点分析  

Electromyography and PMP22 gene analysis in patients with type 1 Charcot-Marie-Tooth disease

作　　者：潘晓丽[1] 潘志宏[2] 张楠楠[1] 高红[3] 

机构地区：[1]中国医科大学附属盛京医院神经功能室,110004 [2]沈阳市红十字会医院骨科,110013 [3]中国医科大学附属盛京医院先天畸形实验室,110004

出　　处：《中国神经免疫学和神经病学杂志》2015年第2期82-85,共4页Chinese Journal of Neuroimmunology and Neurology

摘　　要：目的探讨和研究腓骨肌萎缩症1型(Charcot-Marie-Tooth disease 1,CMT1)患者肌电图和PMP22基因改变特点。方法对43例CMT1患者进行常规神经传导速度和肌电图检查,应用PCR双酶切方法对其中33例CMT1患者及15名健康志愿者(对照组)检测17p11.2-12 PMP22基因重复序列(即1760bp片段)。33例CMT1患者依有无17p11.2-12 PMP22基因特异性片段分为PMP22基因特异性片段阳性组与阴性组,比较两组患者神经传导改变有无差异。结果 43例患者均行肌电图检测,均表现为运动或感觉神经传导速度存在明显减慢(100%),感觉神经病变重于运动神经,下肢受累程度重于上肢;所检129块肌肉中,88块(68.2%)呈神经源性损害。经PMP22基因学检测的33例中20例(60.6%)检测出1760bp片断,对照组均未检测到此片段。PMP22基因特异性片段阳性组感觉神经传导速度、运动神经传导速度及远端潜伏期与阴性组比较差异均无统计学意义(P>0.05)。结论 CMT1患者肌电图改变具有其特异性,结合PCR-双酶切法检测PMP22特异性基因重复序列可提高诊断CMT1的准确性及敏感性。Objective To study the electromyography and PMP22 gene features in patients with type 1Charcot-Marie-Tooth（CMT）disease. Methods Routine electromyography and nerve conduction were performed in 43 patients with CMT 1.Polymerase chain reaction（PCR）combined with restriction enzyme digestion was used to detect PMP22 gene duplication on chromosome 17p11.2-12（1760bp）in 33 CMT 1patients and 15 healthy volunteers（the control group）.According to the presence or absence of 17p11.2-12PMP22 gene segments,33 CMT 1 patients were divided into the positive group and the negative group.Parameters of nerve conduction were compared between two groups.Results All of the patients had the nerve conduction velocities slower or disappeared（43/43,100%）.Sensory nerves and motor nerves were probably damaged at the same time,but the damages of the sensory nerves were more severe than those of the motor nerves,the damages of the lower limbs were more severe than those of the upper.Of 129 muscles tested,88（68.2%）showed neurogenic damages.60.6%（20/33）of the patients were identified to have specific junction fragments（1760bp）.Duplication was not identified in the controls.There were no statistically significant difference of the parameters,such as sensory nerve velocity,motor nerve conduction velocity and distal latency between two groups（P 〉0.05）.Conclusions Electromyography has its specificity in CMT 1 patients,in combination with double enzyme digestion method by PCR to detect PMP22 repetitive sequence specific genes can increase the accuracy and sensitivity in the diagnosis of CMT 1.

关 键 词：腓骨肌萎缩症 PCR-双酶切 PMP22基因 肌电图 

分 类 号：R746.4[医药卫生—神经病学与精神病学]