神经元核内包涵体病的电生理特点及其辅助诊断价值分析  

Electrophysiological characteristics of neuronal intranuclear inclusion disease and its auxiliary diagnostic value

作　　者：李庆节 鲍磊 张瑞雪 时宏娟 张沈阳 左丹丹 孟文晴 崔桂云 陈浩 Li Qingjie;Bao Lei;Zhang Ruixue;Shi Hongjuan;Zhang Shenyang;Zuo Dandan;Meng Wenqing;Cui Guiyun;Chen Hao(Department of Neurology,Affiliated Hospital of Xuzhou Medical University,Xuzhou 221600,China)

机构地区：[1]徐州医科大学附属医院神经内科,徐州221600

出　　处：《中华神经医学杂志》2023年第4期374-381,共8页Chinese Journal of Neuromedicine

基　　金：江苏省高校省级重点实验室开放课题(XZSYSKF2020010);徐州市卫生健康委2020年度青年医学科技创新项目(XWKYHT20200001);2020年度徐州医科大学附属医院科技发展基金(XYFZ2020008)。

摘　　要：目的总结神经元核内包涵体病(NIID)的电生理特点并探讨电生理检查在其辅助诊断中的价值。方法选择徐州医科大学附属医院神经内科自2020年2月至2022年6月收治的20例经皮肤活检和基因检测确诊的NIID患者(15例有症状,5例无症状)进行研究,分析其周围运动/感觉神经传导、针极肌电图、F波、重复电刺激、交感神经皮肤反应(SSR)、震颤分析等电生理检查结果,并对15例有症状NIID患者(有症状NIID组)与11例年龄、性别相匹配的正常健康者(对照组)的周围神经传导和SSR指标进行比较。结果(1)15例有症状NIID患者均存在电生理检查结果异常:14例存在周围神经传导异常,其中运动神经传导速度(MCV)减慢14例,复合肌肉动作电位(cMAP)波幅降低4例,感觉神经传导速度(SCV)减慢12例,感觉神经动作电位(sNAP)波幅降低3例,总体表现出对称的神经传导速度减慢而波幅相对保留;4例针极肌电图显示为神经源性损害;13例F波潜伏期有不同程度延长;12例出现SSR异常;4例表现出4.0~7.5 Hz的同步性震颤。(2)5例无症状NIID患者中3例存在周围神经传导异常,其中MCV减慢3例,SCV减慢2例,sNAP波幅降低1例;3例出现SSR异常。(3)有症状NIID组与对照组间上下肢神经MCV及SCV、部分cMAP波幅及sNAP波幅,以及SSR潜伏期、波幅的差异均有统计学意义(P<0.05)。结论周围神经损伤在NIID患者中较常见,其中以髓鞘损害和自主神经受损尤为突出,且部分患者在临床症状出现前即已经出现电生理异常,故建议将周围神经传导及SSR检查作为NIID的辅助诊断手段。Objective To summarize the electrophysiological characteristics of neuronal intranuclear inclusion disease(NIID)and explore the value of electrophysiological examination in NIID auxiliary diagnosis.Methods Twenty NIID patients diagnosed by pathological biopsy and genetic confirmation(15 were symptomatic,5 were asymptomatic),admitted to Department of Neurology,Affiliated Hospital of Xuzhou Medical University from February 2020 to June 2022 were chosen.Peripheral motor/sensory nerve conduction,needle electromyography,F wave,repetitive electrical stimulation,skin sympathetic reflex(SSR),and tremor were analyzed.Peripheral nerve conduction and SSR parameters were compared between 15 patients with symptomatic NIID(symptomatic NIID group)and 11 age-and gender-matched normal control subjects(control group).Results(1)All 15 patients with symptomatic NIID were with abnormal electrophysiological findings:14 patients had abnormal peripheral nerve conduction,including 14 with slowed motor nerve conduction velocity(MCV),4 with reduced composite muscle action potential(cMAP)wave amplitude,12 with slowed sensory nerve conduction velocity(SCV),and 3 with reduced sensory nerve action potential(sNAP)wave amplitude,and overall slowed nerve conduction velocity and relatively preserved wave amplitude were noted;4 patients had neurogenic lesions by needle electromyography;13 patients had prolonged F-wave latency at varied degrees;12 showed abnormal SSR;4 exhibited synchronous tremor from 4.0 to 7.5 Hz.(2)In 5 patients with asymptomatic NIID,3 had abnormal peripheral nerve conduction,including 3 with slowed MCV,2 with slowed SCV,and 1 with reduced sNAP wave amplitude;3 showed abnormal SSR.(3)Significant differences in MCV and SCV,some cMAP and sNAP amplitudes,and SSR latency and amplitude were noted in nerves of the upper and lower extremities between the symptomatic NIID group and control group(P<0.05).Conclusion Peripheral nerve damages are common in patients with NIID,especially myelin damage and autonomic nerve injury,and some pati

关 键 词：神经元核内包涵体病 周围神经传导 交感神经皮肤反应 

分 类 号：R741[医药卫生—神经病学与精神病学]