脊髓小脑性共济失调3型无症状基因携带者与患者周围神经传导特征  

The characteristics of nerve conductive studies in preclinical carriers and patients of spinocerebellar ataxias type 3

作　　者：蔡琼 孙金仓健 尤桦菁 廖松洁[1] 吴超[1] 李洵桦[1] CAI Qiong;SUN Jincangjian;YOU Huajing;LIAO Songjie;WU Chao;LI Xunhua(Department of Neurology,The First Affiliated Hospital,Sun Yat-sen University,Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases;National Key Clinical Department and Key Discipline of Neurology,No.58 Zhongshan Road 2,Guangzhou 510080,China)

机构地区：[1]广州中山大学附属第一医院神经科,国家临床重点专科,广州510080 [2]广州中山大学附属第一医院耳鼻咽喉科

出　　处：《中国神经精神疾病杂志》2022年第1期7-13,共7页Chinese Journal of Nervous and Mental Diseases

基　　金：广东省科技计划项目(编号:2017A030303012);广东省重大神经疾病诊治研究重点实验室(编号:广东省科技项目2017B030314103);华南神经疾病早期干预及功能修复研究国际合作基地(编号:广东省科技项目2015B050501003);广东省神经系统疾病重大疾病诊治工程技术研究中心(编号:广州市科技项目201604020010);广东省神经系统重大疾病诊治转化医学创新平台;广州市科技计划项目(编号:201803010033)。

摘　　要：目的探讨脊髓小脑性共济失调3型(spinocerebellar ataxia type 3,SCA3)无症状基因携带者与患者周围神经传导异常特征,寻找与SCA3疾病严重程度及病程相关的电生理指标。方法对确诊的20例无症状基因携带者(preclinical carriers of spinocerebellar ataxias type 3,PreSCA3)、39例SCA3患者及32名健康对照者进行周围神经传导(nerve conductive study,NCS)检测,比较各组间的神经传导异常,分析各电生理参数与共济失调等级量表(scale for the assessment and rating of ataxia,SARA)总分及病程的相关性。结果PreSCA3感觉神经传导异常发生率为20%,并且PreSCA3组尺神经、胫神经、腓肠神经SNAP波幅及尺神经MCV显著低于健康对照组(P<0.05)。SCA3患者NCS异常发生率为69.2%,以感觉神经传导异常为主(53.8%),主要表现为混合性损害(48.1%)。与健康对照组相比,SCA3患者所有检测神经SNAP波幅、SCV及腓总神经CMAP波幅、尺神经MCV显著降低(P<0.05)。此外,正中、尺、胫、腓总及腓肠神经SNAP波幅、SCV与SARA总分及病程呈负相关(P<0.05)。结论部分PreSCA3已存在周围神经损害,主要累及感觉神经。SCA3患者NCS检查异常率高,主要表现为混合性损害为主的感觉性周围神经病。SNAP波幅、SCV可能作为监测疾病发生发展的潜在生物学标记物。Objective To explore the neurophysiological characteristics of peripheral neuropathy in preclinical carriers and spinocerebellar ataxias type 3(SCA3),and to analyze the electrophysiological parameters related to the severity of ataxia and disease duration.Methods A total of 20 preclinical carriers,39 patients and 32 healthy controls were assessed by nerve conductive study(NCS).A comparison was made on the NCS characteristics between preclinical carriers,patients and healthy controls.Statistical analysis was conducted to evaluate the correlation between electrophysiological parameters,ataxia score and disease duration.Results Twenty percent of preclinical carriers presented abnormalities in sensory NCS.The sensory nerve action potential(SNAP)amplitude of ulnar nerve,tibial nerve and sural nerve were significantly decreased and the motor conduction velocity(MCV)of ulnar nerve was significantly slow in the PreSCA3 in comparison with the normal controls(P<0.05).There were 69.2%of SCA3 patients with NCS abnormalities,and 53.8%of them showed sensory neuropathy with mixed type neuropathy(48.1%).Furthermore,the SNAP amplitude and sensory conduction velocity(SCV)were significantly lower in all nerves of SCA 3 patients than in healthy controls(P<0.05).Both SNAP amplitude and SCV of median nerve,ulnar nerve,tibial nerve,peroneal nerve and sural nerve were negatively related with the SARA score and disease duration.Conclusion Some preclinical carriers already have shown the signs of involvement of the peripheral nervous system,especially the sensory nerve,and most patients of SCA 3 have sensory fiber damage present with mixed neuropathy.The SNAP amplitude and SCV may be served as potential biomarkers to assess the progression of SCA3.

关 键 词：脊髓小脑性共济失调 神经电生理检查 周围神经传导 感觉神经动作电位 感觉传导速度 生物学标记物 携带者 

分 类 号：R741[医药卫生—神经病学与精神病学]