腓骨肌萎缩症四种最常见基因亚型的电生理特点分析  

The electrophysiological characteristics of the four most common genotypes of Charcot-Marie-Tooth disease

作　　者：张捷君 黄顺祥[1] 赵华栋[1] 李小波[1] 刘蕾[2] 谢雍之 资晓宏[1] 唐北沙[3] 张如旭[1] Zhang Jiejun;Huang Shunxiang;Zhao Huadong;Li Xiaobo;Liu Lei;Xie Yongzhi;Zi Xiaohong;Tang Beisha;Zhang Ruxu(Department of Neurology,the Third Xiangya Hospital of Central South University,Changsha 410013, China;Health Management Center,the Third Xiangya Hospital of Central South University,Changsha 410013,China;Xiangya Hospital of Central South University,Changsha 410008,China)

机构地区：[1]中南大学湘雅三医院神经内科,长沙410013 [2]中南大学湘雅三医院健康管理中心,长沙410013 [3]中南大学湘雅医院,长沙410008

出　　处：《中华神经科杂志》2019年第1期26-33,共8页Chinese Journal of Neurology

基　　金：国家自然科学基金资助项目(81771366);湖南省卫生计生委科研计划课题(A2017001);湖南省自然科学基金重点资助项目(2017JJ2365).

摘　　要：目的 探讨中国人群中腓骨肌萎缩症(Charcot-Marie-Tooth disease,CMT)1A、1X、2A及髓鞘蛋白零基因(MPZ)相关CMT 4种CMT亚型患者的神经电生理特点。 方法 对2004—2018年就诊于中南大学湘雅三医院和湘雅医院的36例CMT1A、78例CMT1X、31例CMT2A、10例MPZ相关CMT患者进行上肢(正中神经、尺神经)及下肢(胫神经、腓总神经)电生理检测。分别测量远端运动潜伏期、运动神经传导速度(MNCV)、感觉神经传导速度及F波潜伏期,并测算传导阻滞、远端潜伏期指数(TLI)和改良F波比率(MFR)以评估周围神经不同节段的脱髓鞘情况;测量复合肌肉动作电位(CMAP)、感觉神经动作电位波幅以评估周围神经轴索病变。对各亚型患者的临床特点如性别、发病年龄、病程及总体神经功能限制量表(ONLS)评分与电生理参数的相关性进行统计学分析。 结果 CMT1A患者表现为弥漫性脱髓鞘伴轴索变性,正中神经MNCV为(21.39±6.72)m/s、CMAP波幅为2.40(3.50)mV。CMT1X患者表现为弥漫性脱髓鞘伴轴索变性,正中神经MNCV为35.20(6.77)m/s、CMAP波幅为2.60(3.79)mV。CMT2A患者以轴索变性为主,正中神经CMAP波幅为(4.75±2.38)mV。MPZ相关CMT患者电生理参数变异较大;CMT1A、CMT1X、CMT2A及MPZ相关CMT患者正中神经和尺神经的TLI及MFR值均无异常;CMT1A患者发病年龄与正中神经MNCV呈正相关(r=0.423,P=0.025),MPZ相关CMT患者发病年龄与正中神经MNCV呈正相关(r=0.782,P=0.013),CMT2A患者发病年龄与正中神经CMAP波幅呈正相关(r=0.652,P<0.01);CMT1X男性患者脱髓鞘及轴索变性均较女性患者严重,男性正中神经MNCV(Z=-3.300,P<0.01)和CMAP波幅(Z=-3.960,P<0.01)、尺神经MNCV(Z=-2.56,P=0.011)和CMAP波幅(Z=-2.311,P=0.048)明显低于女性患者;CMAP波幅分别与CMT1A(r=-0.494,P<0.01)、CMT1X(r=-0.596,P<0.01)、CMT2A(r=-0.494,P=0.012)患者的ONLS评分呈负相关。 结论 CMT1A、CMT1X、CMT2A及MPZ相关CMT各亚型具有不同的电生理特点,神经电�Objective To analyze the electrophysiological characteristics of Charcot-Marie-Tooth (CMT) disease 1A, 1X, 2A and myelin protein zero (MPZ)-related CMT in Chinese patients. Methods Baseline electrophysiological data from 36 CMT1A patients, 78 CMT1X patients, 31 CMT2A patients and 10 MPZ-related CMT patients in the Third Xiangya Hospital and Xiangya Hospital of Central South University during 2004-2018 were analyzed. Electrophysiological recordings were taken from the upper limbs (median nerve, ulnar nerve) and lower limbs (tibial nerve, peroneal nerve). Demyelination in different nerve segments was assessed by measurement of distal motor latency, motor nerve conduction velocity (MNCV), sensory nerve conduction velocity and F-wave latency, and calculation of conduction block, terminal latency index (TLI) and modified F ratio (MFR);Axonal degeneration was assessed by measuring compound motor action potential (CMAP) and sensory nerve action potential. The relationship between the gender, age at onset, duration, Overall Neuropathy Limitation Scale (ONLS) score and indexes of peripheral nerve electrophysiology was statistically analyzed. Results The peripheral nerves of CMT1A patients were characterized by uniform demyelination and axonal degeneration. MNCV ((21.39±6.72) m/s) and CMAP amplitude (2.40 (3.50) mV) of median nerve of CMT1A patients were decreased. The peripheral nerves of CMT1X patients were also characterized by uniform demyelination and axonal degeneration. MNCV (35.20 (6.77) m/s) and CMAP amplitude (2.60 (3.79) mV) of median nerve of CMT1X patients were decreased. CMT2A patients showed axonal degeneration of the peripheral nerves and CMAP amplitude ((4.75±2.38) mV) of median nerve of CMT2A patients was decreased. The electrophysiological data in MPZ-related CMT patients demonstrated variability. The TLI and MFR for the median and ulnar nerves in these four subtypes were normal.MNCV (r=0.423, P=0.025) of median nerve in CMT1A patients was positively correlated with age at onset. MNCV (r=0.782, P=0.013

关 键 词：腓骨肌萎缩症 周围神经系统疾病 电生理学 

分 类 号：R746.4[医药卫生—神经病学与精神病学]