摘要
目的 对腓骨肌萎缩症（CMT）患者进行三重刺激技术（TST）检测,探索其上运动神经元（UMN）损害的亚临床证据,以期为致病基因的筛选提供依据.方法 分析2013年8月至2015年8月于北京大学第三医院神经内科就诊的经基因检测确诊的CMT患者65例.对其进行临床查体、神经电生理检测,主要观察锥体束征和TST检测（包括经颅磁刺激、外周神经刺激、对冲技术等）结果,计算TST test/TST control波幅比,判断其上运动神经元功能状况.结果 临床查体发现7例患者下肢腱反射亢进,Babinski征阳性,肌张力增高,其中2例合并上肢腱反射亢进,Hoffmann征阳性.10例患者TST test/TST control波幅比下降（其中5例下肢腱反射亢进,Babinski征阳性,2例合并上肢腱反射亢进,Hoffmann征阳性）.对应的致病基因：MFN2基因突变5例,BSCL2基因突变1例,3例GJB1基因突变,GDAP基因突变1例.根据临床查体和TST结果,18.5％（12例）的患者存在上运动神经元损害.结论 CMT患者可存在上运动神经元损害,据此可进行相关致病基因检测.
Objective To investigate the presence of upper motor neuron dysfunction in patients with Charcot-Marie-Tooth disease （CMT） by triple stimulation technique （TST） to provide evidence for gene diagnosis.Methods A total of 65 CMT patients confirmed by genetic testing from Peking University Third Hospital between August 2013 and August 2015,underwent physical examination and routine electrophysiological tests and triple stimulation technique.The TST combined transcranial magnetic stimulation （TMS） of the motor cortex with peripheral collision studies.The results were expressed by the TST amplitude ratio （TST test/TST control）.Based on the result of physical examination and the ratio of TST,the function of upper motor neuron was assessed.Results All of the CMT patients had typical presentations and were confirmed genetically.Hyperreflexia,Babinski sign and muscular hypertonia were discovered in lower limbs in 7 CMT patients,while 2 patients complicated with hyperreflexia and Hoffmann sign in upper limbs.TST amplitude ratio was significantly altered in 10 patients,including 5 patients with pyramid sign：hyperreflexia,Babinski sign and muscular hypertonia was discovered in lower limbs while 2 patients complicated with hyperreflexia and Hoffmann sign in upper limbs.The disease-causing mutations were：MFN2 mutations in 5 patients,1 patient with BSCL2 mutation,3 patients with GJB1 mutations and 1 patient with GDAP mutation.In summary,18.5% （12 patients） of the 65 CMT patients had upper motor neuron dysfunction based on the result of physical examination and the ratio of TST.Conclusion Upper motor neuron dysfunction may be found in CMT patients,which may provide clues for the testing of diseasecausing mutations.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2016年第21期1660-1663,共4页
National Medical Journal of China
基金
国家自然科学基金重点项目（81030019）
北京市自然科学基金（7102161）
关键词
腓骨肌萎缩症
上运动神经元
经颅磁刺激
三重刺激技术
Charcot-Marie-Tooth disease
Upper motor neuron
Transcranial magnetic stimulation
Triple stimulation technique
