肌电图广泛神经源性损害和肌萎缩侧索硬化的诊断

目的 探讨肌电图广泛神经源性损害与肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)诊断之间的关系.方法 对2002年1月至2008年12月北京协和医院运动神经元疾病数据库进行回顾性分析,统计肌电图表现为广泛神经源性损害的疾病种类,总结ALS患者首次就诊时肌电图神经源性损害的分布区域和随诊后的结果,并对影响ALS初诊时肌电图表现的因素进行Logistic 回归分析.结果 在首次就诊时,共有298例患者的肌电图表现为广泛神经源性损害,其中ALS 192例(64.4％),进行性肌萎缩36例(12.1％),肯尼迪病13例(4.4％),平山病10例(3.4％),颈椎病或腰椎病9例(3.0％),脊髓性肌萎缩6例(1.3％),多灶性运动神经病5例(1.7％),ALS叠加综合征5例(1.7％),肌病4例(1.3％),遗传性运动神经病3例(1.0％),运动轴索性周围神经病3例(1.0％),脊髓灰质炎后综合征2例(0.7％),未能确定诊断者10例(3.4％).本数据库中,共有213例患者最后确诊为ALS,其中第1次肌电图检查时,8例(3.8％)表现为2个区域神经源性损害,13例(6.1％)表现为1个区域神经源性损害,经随诊3～24个月后,均发展为广泛神经源性损害.Logistic回归分析显示,ALS肌电图广泛神经源性损害的表现与病程、起病部位、发病年龄以及性别无关.结论 广泛神经源性损害的肌电图改变并非仅见于ALS;在疾病发生后一定时期内,ALS也可以仅有1个或2个区域的神经源性损害.     

肌萎缩侧索硬化患者的重复神经电刺激特点

目的探讨肌萎缩侧索硬化(ALS)患者重复神经电刺激(RNS)特点,及其在ALS诊断和鉴别诊断中的应用价值。方法收集2008-05-2009-04在北京协和医院神经科门诊或住院确诊或拟诊的ALS患者101例,另选择同期门诊就诊的非ALS肌肉萎缩患者40例为对照。记录患者的临床资料。所有患者行肌电图和RNS检查。比较ALS患者和非ALS肌萎缩患者RNS阳性率的差异。比较ALS患者不同神经RNS阳性率及递减幅度差异,并分析性别、年龄、病程、尺神经波幅、临床疾病分级对RNS阳性率的影响。结果 (1)ALS患者和非ALS肌萎缩无力患者RNS检查低频递减阳性率分别为53.5%和7.5%,两组间比较差异有统计意义(P0.05),未出现高频递增患者。(2)所检测神经低频递减阳性率从高至低依次为腋神经(30.6%)副神经(25%)桡神经(15.5%)尺神经(7.8%)面神经(1.0%)胫神经(0%)。(3)ALS患者RNS检测低频递减阳性率与性别、年龄、病程、临床疾病分级无关(均P0.05),肢体起病者较球部起病者RNS低频递减阳性率高(P0.05)。结论 ALS患者RNS检测低频递减阳性率较非ALS肌无力萎缩患者高,RNS检测有助于ALS的诊断和鉴别诊断。ALS患者RNS检测低频递减阳性与性别、年龄、病程、临床疾病分级均无关。     

肌萎缩侧索硬化伴干燥综合征四例临床分析

目的 分析4例肌萎缩侧索硬化(ALS)合并干燥综合征的病例特点.方法 通过临床特点、实验室检查、电生理等结果分析ALS合并干燥综合征患者的临床特点及电生理改变.结果 4例患者均为中老年女性,进行性病程,3例符合临床拟诊ALS,1例符合实验室支持-临床拟诊ALS.所有患者肌电图显示广泛神经源性损伤.2例患者经免疫调节治疗后运动症状一过性改善.结论 对于ALS患者应注意排查伴发干燥综合征的可能,以利于及早对可治性疾病进行治疗.     

肌萎缩侧索硬化症的诊断及病因分析(附238例病例报告)

目的探讨肌萎缩侧索硬化症(ALS)的诊断和发病机制.方法回顾性分析238例肌萎缩侧索硬化症的一般状况、临床表现、既往史、家族史以及实验室检查.结果本组患者均出现上下运动神经元损害的表现,肯定ALS为143例,拟诊ALS81例,可能ALS为14例.结论ALS的病因尚未明确.临床症状、体征以及肌电图是诊断的依据.     

上运动神经元损害为主的肌萎缩侧索硬化患者的临床和神经电生理特点

目的 探讨以上运动神经元损害为主要表现的肌萎缩侧索硬化( UMN-D ALS)的临床和神经电生理特点.方法 回顾分析76例UMN-D ALS患者及19例原发性侧索硬化(PLS)患者,对其临床表现和神经电生理特点进行总结、比较.神经电生理研究主要包括四肢神经传导速度和延髓、颈、胸、腰骶4个区的肌肉肌电图检测,每隔6个月复查1次.结果 8例初诊为PLS的患者随访中出现下运动神经元损害的表现,转入UMN-D ALS组,此组患者增为84例.＞40岁的UMN-D ALS患者中女性更多(男:女=1∶1.37).32例(38.1％)延髓部起病,从首发症状到肌电图提示神经源性改变平均为30个月,77例(91.6％)在病程4年内出现下运动神经元损害的表现.随访4年时,UMN-D ALS组修改版ALS神经功能评分(分)由40±3下降为32±4(t=1.83,P＜0.05);UMN-D ALS组与PLS组第一骨间肌运动单位动作电位波幅、时限相比[(1003.7±25.2) μV和(353.5±21.5) μV,t=2.34,P＜0.05;(19.8±2.3)ms和(9.6±1.3)ms,t=1.85,P＜0.05]差异有统计学意义.结论 UMN-D ALS患者中女性、以延髓部起病患者比例较高,比PLS进展快,肌电图神经源性损害局限.     

1例脊髓延髓肌萎缩症患者的临床分析

目的探讨脊髓延髓肌萎缩症(spinal and bulbar muscular atrophy,SBMA)的临床特征及诊断。方法对1例四肢无力伴言语含糊的患者进行临床、实验室、神经电生理、基因学检查。结果男性患者,慢性起病,表现为四肢无力,缓慢进行性进展,逐渐出现言语含糊、肌肉萎缩,血清激酶水平升高,肌电图EMG提示神经源性损害。结论脊髓延髓肌萎缩症的临床特征与肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)极其相似,通过病史、查体、实验室、神经电生理、基因检测有利于疾病的诊断。     

肌萎缩侧索硬化患者膈神经传导的电生理分析

目的 通过分析肌萎缩侧索硬化(Amyotrophic Lateral Sclerosis,ALS)患者膈神经传导检测,并结合其它神经电生理资料,为该病提供更深入的认识,进一步指导临床诊疗。方法 研究范围为武汉大学人民医院2014年1月-2021年12月就诊的ALS患者共88例,收集患者的一般资料、主要症状及体征、肌萎缩侧索硬化改良量表(ALSFRS-R)评分、运动神经传导检测中的复合肌肉动作电位(CMAP)波幅和远端运动潜伏期(DML)等指标。结果(1)运动神经传导检测中CMAP波幅降低192条(43.6%),膈神经波幅异常率为35.2%; 远端潜伏期延长116条(26.4%),膈神经DML异常率为77.3%;(2)膈神经DML在性别方面存在明显差异(P<0.01);(3)ALSFRS-R评分与膈神经、尺神经、正中神经、腓总神经、胫神经的CMAP波幅呈正相关(r=0.393,P<0.01; r=0.375,P<0.01; r=0.413,P<0.01; r=0.251,P<0.05; r=0.442,P<0.01);(4)膈神经DML及CMAP波幅在起病部位方面存在明显差异(P<0.05; P<0.05);(5)膈神经DML在判断病情中度和轻度之间的最佳界点为9.095 ms,敏感性为85.7%,特异性为80.2%。结论 ALS患者的运动神经传导可表现异常,CMAP波幅下降占比较大,但膈神经中潜伏期延长比CMAP波幅降低更多见。膈神经传导检测存在一定程度的性别差异。行运动神经传导检测时多条神经CMAP波幅变化可反映ALS患者病情严重程度。膈神经潜伏期变化可更敏感地反映ALS的病情严重程度,以期指导临床诊断与治疗。     

139例肌萎缩侧索硬化临床及肌电图表现特点

目的 探讨肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)的临床及电生理特征,为早期准确诊断ALS提供依据.方法 回顾性研究近5年来收治的门诊及住院139例肌萎缩侧索硬化患者的临床及电生理表现,对其发病特点、症状、体征及实验室检查进行统计分析.结果 ALS在临床上慢性隐袭起病,逐渐进展,50岁前后发病,平均年龄49.1岁,平均病程2.4年.男性明显多于女性.首发症状为单侧上肢肌肉无力和肌肉萎缩最常见,其次为肌束震颤、延髓麻痹、锥体束征等,少数患者可出现肢体麻木、疼痛或发凉等感觉异常.临床主要症状是肢体无力、肢体和舌肌肌肉萎缩、锥体束征、肢体和舌肌肌束震颤.所有ALS侵害的部位均表现神经源性损害,胸锁乳突肌肌电图检查、胸脊旁肌肌电图、头部/颈/腰椎CT及MRI等辅助检查具有重要的确诊及鉴别诊断意义.结论 目前ALS的诊断仍然依靠临床表现.肌电图、CT/MRI是ALS诊断和鉴别诊断的重要辅助手段.     

胸锁乳突肌肌电图在鉴别肌萎缩侧索硬化与颈椎病性脊髓病的研究

对106例肌萎缩侧索硬化(ALS)与颈椎病性脊髓病(CSM),及两病鉴别困难者进行胸锁乳突肌、肢体肌及舌肌EMG检查。结果ALS组胸锁乳突肌神经源性损害的异常率高于三肢体肌、舌肌;CSM组胸锁乳突肌无1例异常。表明该肌神经源性损害能明显提高ALS亚临床的阳性率,有助于ALS的早期诊断及ALS与CSM两病的鉴别。     

肌萎缩侧索硬化症152例下胸段脊旁肌肌电图特点

目的探讨下胸段脊旁肌肌电图在肌萎缩侧索硬化症(ALS)诊断中的应用价值。方法总结152例确诊ALS患者的临床及电生理资料,观察下胸段脊旁肌肌电图的特点,并分析其与病程、年龄、首发部位、呼吸困难、胸锁乳突肌肌电图、舌肌肌电图的相关性。结果152例ALS中,下胸段脊旁肌肌电图出现自发电位者125例(82．24%)；胸锁乳突肌肌电图呈神经源性损害83例(55．33%),其中出现自发电位者45例。通过Logistic多元回归分析提示脊旁肌肌电图与病程、年龄有关,而与首发部位、呼吸困难无明显相关性。结论脊旁肌肌电图与ALS患者的病程及年龄有关,且下胸段脊旁肌肌电图方便易行,在ALS中诊断价值较大。     

Needle EMG of the tongue: motor unit action potential versus peak ratio analysis in limb and bulbar onset amyotrophic lateral sclerosis

OBJECTIVES—to find out if conventional andautomatic needle EMG of the tongue can be helpful in the diagnosis anddifferentiation of limb and bulbar onset amyotrophic lateral sclerosis.
METHODS—Motor unit action potential (MUAP)analysis and peak ratio interference pattern analysis were performed inthe right genioglossus muscle of 30 healthy subjects aged 30-81 years,10 patients aged 49-73 years with limb onset amyotrophic lateralsclerosis, and eight patients aged 52-75 years with bulbar onsetamyotrophic lateral sclerosis. Electrical activity was sampled viastandard concentric needle electrodes with a commercially available EMG recorder.
RESULTS—Normal mean (2SD) MUAP duration was 6.6 (1.5) ms. Normal mean (2SD) MUAP amplitude was 224 (97.4) µV. Normalmean (2SD) peak ratio (PR), turns/second (T/s), amplitude/turn (A/T),and time intervals (TI1, TI2, TI3) were 1.68 (0.56), 732 (303.9), 446 (180.3) µV, 2.62 (0.34), 2.31 (0.14), and 1.01 (0.50) respectively.Mean MUAP duration and amplitude were significantly increased in limb onset (P=0.0001 and P=0.013) and bulbar onset amyotrophic lateral sclerosis (P=0.0001 and P=0.017). Peak ratio indices stayed unchanged in limb onset amyotrophic lateral sclerosis but were significantly decreased (PR, T/s, A/T, TI1, and TI2) or increased (TI3) in bulbar onset disease. The sensitivity of the MUAP analysis was 70% in limband 75% in bulbar onset amyotrophic lateral sclerosis. The sensitivityof the peak ratio interference pattern analysis was 20% in limb and100% in bulbar onset amyotrophic lateral sclerosis. Subclinicalinvolvement of the tongue was found in 20% of the patients with limbonset amyotrophic lateral sclerosis and could be more accuratelyassessed with MUAP analysis than with automatic EMG.
CONCLUSIONS—both conventional and automaticneedle EMG of the tongue are valuable electrophysiological devices toassess the clinical and subclinical involvement of the tongue inpatients with limb and bulbar onset amyotrophic lateral sclerosis.

     

肌萎缩侧索硬化症的临床特点与起病部位的关系研究

目的:探索肌萎缩侧索硬化症(ALS)发病的危险因素与起病部位的关系,为该病的早期诊断提供新思路.方法:选取复旦大学附属华山医院神经内科2000至2010年出院诊断为ALS患者57例,回顾性分析患者的临床资料及相关危险因素.根据不同的起病部位分为延髓起病组、颈段起病组、腰段起病组.通过单因素/多因素回归方法分析比较各组间...     

Can lesions to the motor cortex induce amyotrophic lateral sclerosis?

A recent staging effort for amyotrophic lateral sclerosis (ALS) has demonstrated that the TDP-43 neuropathology may initiate focally in the motor cortex in the majority of patients. We searched our data bank for patients with lesions of the motor cortex which preceded disease onset. We performed a search of our patient- and MRI-data bank and screened 1,835 patients with amyotrophic lateral sclerosis for frontal lobe/motor cortex lesions. We found 18 patients with definite ALS who had documented and defined lesions of the motor cortex, which preceded the initial ALS symptoms by 8–42 years. In the vast majority (15/18) of the patients, the onset of ALS was closely related to the focal lesion since it started in a body region reflecting the damaged cortical area. The findings suggest that initial lesions to the motor cortex may be a contributing initiating factor in some patients with ALS or determine the site of onset in individuals pre-disposed to ALS.     

Interleukin-1beta converting enzyme/Caspase-1 (ICE/Caspase-1) and soluble APO-1/Fas/CD 95 receptor in amyotrophic lateral sclerosis patients

OBJECTIVES: The aim of the study was to investigate the role of ICE/ Caspase-1 and soluble APO-1/Fas/CD 95 receptor in amyotrophic lateral sclerosis patients. MATERIAL AND METHODS: The apoptosis parameters were measured by enzyme-linked immunosorbent assay (ELISA) in serum and cerebrospinal fluid from 25 amyotrophic lateral sclerosis and 15 control patients. RESULTS: There has been shown a significant increase of ICE/Caspase-1 level in serum, and significant decrease of this parameter in cerebrospinal fluid from amyotrophic lateral sclerosis patients. Soluble APO-1/Fas/CD 95 level in amyotrophic lateral sclerosis patients did not differ from the control group. There was no significant correlation between clinical status, duration of amyotrophic lateral sclerosis, and levels of ICE/Caspase-1 and soluble APO-1/Fas/CD 95. CONCLUSION: Our study suggests that ICE/Caspase-1 may play a role in neurodegeneration in ALS. Due to ethical difficulties we cannot include patients suffering from progressive neurological diseases, who are a more appropriate control group for the amyotrophic lateral sclerosis patients. Therefore we are limited in drawing conclusions from the research.     

Immunoassays fail to detect antibodies against neuronal calcium channels in amyotrophic lateral sclerosis serum

Recent studies suggested that autoantibodies that bind to voltage-dependent calcium channels and activate calcium entry may play a role in the progressive degeneration of motoneurons in sporadic amyotrophic lateral sclerosis. Immunoassays were performed to assess autoantibody titer in patients with amyotrophic lateral sclerosis or Lambert-Eaton myasthenic syndrome, a disease in which the presnce of anti-calcium channel antibodies is well documented. Based on immunoprecipitation assays for antibodies against N-type calcium channels, only 8% (2/25) of amyotrophic lateral sclerosis patients had marginally positive titers, whereas 58% (18/31) of patients with Lambert-Eaton myasthenic syndrome had positive titers. Enzyme-linked immunosorbent assays with purified neuronal N-type calcium channels revealed immunoreactivity in 2 of 25 amyotrophic lateral sclerosis sera and 12 of 31 Lambert-Eaton myasthenic syndrome sera, which is not compatible with suggestions that enzyme-linked immunosorbent assay is a more sensitive technique for the detection of autoantibodies in amyotrophic lateral sclerosis. Furthermore, based on immunoprecipitation assays, amyotrophic lateral sclerosis sera were totally negative for antibodies against L-type calcium channels from skeletal muscle or brain. These data do not support the hypothesis that an autoimmune response against calcium channels plays a primary role in amyotrophic lateral sclerosis.     

Predicting the duration of Guam amyotrophic lateral sclerosis.

During the years of study of amyotrophic lateral sclerosis on Guam we have observed a wide range in clinical signs and rate of progression of the disease. Some patients died within 6 months of onset, while others have lived for 20 years. It was our assumption that some aspects of the early neurologic involvement would be related to length of survival, and hence be of prognostic value. We found that an early age at onset and male sex were associated with longer survival. The detailed analysis of degree of involvement of four major neurologic components of amyotrophic lateral sclerosis (progressive muscular atrophy, lateral sclerosis, bulbar paralysis, and pseudobulbar palsy) showed no meaningful pattern of association with duration of illness that could be useful in predicting the course.     

MAPT as a predisposing gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population

A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau （MAPT） gene was significantly associated with sporadic amyotrophic lateral sclerosis pathogenesis. Here, we tested this association in 107 sporadic amyotrophic lateral sclerosis patients and 100 healthy controls from the Chinese Han population. We screened the mutation-susceptible regions of MAPT- the 3＇ and 5＇ untranslated regions as well as introns 9, 10, 11, and 12 - by direct sequencing, and identified 33 genetic variations. Two of these, 105788 A 〉 G in intron 9 and 123972 T 〉 A in intron 11, were not present in the control group. The age of onset in patients with the 105788 A 〉 G and/or the 123972 T 〉 A variant was younger than that in patients without either genetic variation. Moreover, the pa- tients with a genetic variation were more prone to bulbar palsy and breathing difficulties than those with the wild-type genotype. This led to a shorter survival period in patients with a MAPT genetic variant. Our study suggests that the MAPT gene is a potential risk gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population.     

Increased metallothionein in the liver and kidney of patients with amyotrophic lateral sclerosis.

To evaluate the putative role of metals and trace elements in the pathogenesis of classic amyotrophic lateral sclerosis, we studied the metallothionein levels in liver and kidney samples obtained at autopsy from 24 patients with amyotrophic lateral sclerosis and 18 controls. To assay metallothioneins and copper, cadmium, and zinc bound to metallothioneins, we used high-performance liquid chromatography directly coupled to flame atomic absorption spectrometry. Total cadmium, zinc, and copper concentrations were determined separately with the use of graphite furnace atomic absorption spectrometry with Zeeman background correction. The median liver metallothionein level was 60.3 mg/kg (range, 9 to 318 mg/kg) in the patients with amyotrophic lateral sclerosis and 12.6 mg/kg (range, 0 to 104.5 mg/kg) in the controls. In the kidney, median metallothionein levels were 126.9 mg/kg (range, 44 to 387 mg/kg) in the patients with amyotrophic lateral sclerosis and 64 mg/kg (range, 13.1 to 187 mg/kg) in the controls. Total zinc, cadmium, and copper concentrations, as measured by atomic absorption spectrometry, were not significantly different in patients vs controls. Our finding of elevated metallothionein levels in organs from patients with amyotrophic lateral sclerosis may indicate an increased exposure to metals.     

Creatine kinase in the diagnosis and prognostic prediction of amyotrophic lateral sclerosis:a retrospective case-control study

Creatine kinase is a muscle enzyme that has been reported at various levels in different studies involving patients with amyotrophic lateral sclerosis.In the present retrospective case-control study,we included 582 patients with amyotrophic lateral sclerosis and 582 age-and sexmatched healthy controls.All amyotrophic lateral sclerosis participants received treatment in the Department of Neurology,West China Hospital,China,between May 2008 and December 2018.Serum creatine kinase levels in patients with amyotrophic lateral sclerosis were significantly higher than those in healthy controls.Subgroup analysis revealed that serum creatine kinase levels in men were higher than those in women in both amyotrophic lateral sclerosis patients and healthy controls.Compared with patients with bulbar-onset amyotrophic lateral sclerosis,patients with limb-onset amyotrophic lateral sclerosis had higher creatine kinase levels.Spearman's correlation analysis revealed that serum creatine kinase levels were not correlated with body mass index,Amyotrophic lateral Sclerosis Functional Rating ScaleRevised score,or progression rate.After adjusting for prognostic covariates,higher log creatine kinase values were correlated with higher overall survival in the amyotrophic lateral sclerosis patients.We also investigated the longitudinal changes in serum creatine kinase levels in 81 amyotrophic lateral sclerosis patients;serum creatine kinase levels were decreased at the second blood test,which was sampled at least 6 months after the first blood test.Together,our results suggest that serum creatine kinase levels can be used as an independent factor for predicting the prognosis of amyotrophic lateral sclerosis patients.This study received ethical approval from the Ethics Committee of West China Hospital,China(approval No.2015(236)) on December 23,2015.     

Microneurographic analysis of muscle sympathetic nerve activity in amyotrophic lateral sclerosis

Muscle sympathetic nerve activity by (microneurograph) blood pressure and heart rate has been studied in patients with amyotrophic lateral sclerosis and in age-matched normal subjects (controls) at rest and during head-up tilt. Muscle sympathetic nerve activity in amyotrophic lateral sclerosis patients was significantly increased at rest unlike controls. There was no correlation between muscle sympathetic nerve activity and age in the patients with amyotrophic lateral sclerosis. Elevated muscle sympathetic nerve activity was present mainly in younger patients. There were no differences between blood pressure or heart rate in either group at rest or during head-up tilt in amyotrophic lateral sclerosis. The increase in muscle sympathetic nerve activity following tilt in the amyotrophic lateral sclerosis patients was less than in the controls, but they had no postural hypotension. The possible reasons for this observation of increased muscle sympathetic nerve activity at rest in amyotrophic lateral sclerosis are discussed.Corresponding Author