神经元核内包涵体病患者140例神经电生理研究  

The neuroelectrophysiological evaluation in 140 patients with neuronal intranuclear inclusion disease

作　　者：田芸[1] 侯漩[2] 张思哲 曾琰 李静[2] 沈璐[2] Tian Yun;Hou Xuan;Zhang Sizhe;Zeng Yan;Li Jing;Shen Lu(Department of Geriatrics,Xiangya Hospital,Central South University,Changsha 410008,China;Department of Neurology,Xiangya Hospital,Central South University,Changsha 410008,China)

机构地区：[1]中南大学湘雅医院老年医学科,长沙410008 [2]中南大学湘雅医院神经内科,长沙410008

出　　处：《中华神经科杂志》2025年第2期123-129,共7页Chinese Journal of Neurology

基　　金：国家自然科学基金(82371866)。

摘　　要：目的:探讨NOTCH2NLC基因相关神经元核内包涵体病(NIID)患者的临床及神经电生理学特征。方法:选取2018年1月至2024年6月在中南大学湘雅医院神经内科及老年医学科确诊的140例NOTCH2NLC基因相关NIID患者为研究对象,收集其临床资料和神经电生理检查结果,总结其临床及神经电生理特点。结果:140例NOTCH2NLC基因相关NIID患者的发病年龄为56.00(45.25,62.75)岁,55.0%(77/140)的NIID患者伴有周围神经症状,但高达98.6%(138/140)的NIID患者神经电生理检查结果显示存在周围神经受累。140例患者中,97.1%(136/140)的患者运动神经传导速度和66.4%(93/140)的患者感觉神经传导速度减慢,53.6%(75/140)的患者复合肌肉动作电位和55.7%(78/140)的患者感觉神经动作电位出现轻度下降。运动神经受累重于感觉神经,下肢受累重于上肢。NIID肌无力型患者(32例)神经传导异常重于非肌无力型患者(认知障碍型,41例;运动障碍型,43例;发作性症状型,24例),表现为混合性脱髓鞘和轴索损伤的运动感觉性神经病,而NIID非肌无力型患者多表现为轻度脱髓鞘性运动感觉性神经病。3种非肌无力型患者神经传导相关电生理检查结果均无明显差异。结论:周围神经病变在NIID患者中常见。NIID患者的神经电生理特征为轻度脱髓鞘性运动感觉性神经病,部分患者还伴有轻度的轴索损伤。神经电生理检查有助于NIID的诊断。Objective:To investigate the clinical and neuroelectrophysiological characteristics of NOTCH2NLC gene-related neuronal intranuclear inclusion disease(NIID).Methods:One hundred and forty patients with NOTCH2NLC gene-related NIID diagnosed in the Department of Neurology and Department of Geriatrics,Xiangya Hospital,Central South University from January 2018 to June 2024 were selected as the research subjects.Their clinical data as well as neuroelectrophysiological results were collected.Their clinical and neuroelectrophysiological characteristics were summarized.Results:The onset age of 140 patients with NOTCH2NLC gene-related NIID was 56.00(45.25,62.75)years.Among them,55.0%(77/140)of patients with NIID presented with peripheral nerve symptoms,but up to 98.6%(138/140)of patients with NIID had peripheral nerve involvement.Out of the patients studied,97.1%(136/140)exhibited a reduction in motor nerve conduction velocity and 66.4%(93/140)showed a decrease in sensory nerve conduction velocity.Furthermore,53.6%(75/140)of patients had mild decrease in compound muscle action potential,and 55.7%(78/140)of patients showed mild reduction in sensory nerve action potential.Motor nerve involvement was more severe than sensory nerve impairment,and lower limb involvement was more severe than upper limb involvement.The nerve conduction abnormalities in the muscle weakness type(n=32)of NIID patients were more severe than those in the non-muscle weakness type(cognitive impairment type,n=41;movement disorder type,n=43;paroxysmal symptom type,n=24),showing mixed demyelinating and axonal sensorimotor neuropathy,while the non-muscle weakness type of NIID patients mostly showed mild demyelinating sensorimotor neuropathy.There was no significant difference in nerve conduction related electrophysiological results among the patients with 3 non-muscle weakness phenotypes.Conclusions:Peripheral neuropathy is common in NIID patients.The neuroelectrophysiological characteristics of NIID patients include slight demyelinating sensorimotor neurop

关 键 词：核内包涵体 神经元核内包涵体病 肌电描记术 神经传导 

分 类 号：R741[医药卫生—神经病学与精神病学]