运动神经元病临床与骨骼肌病理112例诊断分析

目的探讨骨骼肌病理对运动神经元病诊断与鉴别诊断的价值。方法收集112例运动神经元病患者的临床、神经电生理及活检骨骼肌病理资料,进行诊断与鉴别诊断分析。结果①入选患者均有肢体无力、肌萎缩,吞咽或呼吸肌无力43例,舌肌萎缩或纤颤50例,伴有肌束震颤69例,初诊伴有上运动神经元受损征78例;②肌电图呈神经源性异常;③临床确诊肌萎缩侧索硬化(ALS)90例(初诊78例、复诊/随访后12例),脊髓性肌萎缩症(SMA)22例,其中肯尼迪病7例;④骨骼肌病理均符合神经源肌病改变,ALS多见小角化肌纤维、核聚集、靶纤维;成人型SMA以小圆形肌纤维在肌束内小群分布为特点,其中肯尼迪病萎缩小圆形肌纤维、核聚集多在肌束间分布。结论①仅表现下运动神经元受累的MND,行骨骼肌活检病理分析有助ALS与SMA的诊断与鉴别诊断;②随诊、动态观察体征与病情进展变化可助ALS确诊。     

以呼吸困难为首发症状的肌萎缩侧索硬化1例报告

肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)是成人运动神经元病最常见的类型。多为散发性ALS(sporadic amyorophic lateral sclerosis,SALS),以肢体无力伴肌肉萎缩、肌束震颤、构音障碍、吞咽困难为主要表现,在疾病晚期,全身肌肉萎缩、呼吸困难、卧床不起。但以呼吸困难起病就诊的患者罕见,本文就我科收治的1例以呼吸困难为首发症状的肌萎缩侧索硬化患者的临床资料报告如下。     

中医治疗肌萎缩侧索硬化的进展

肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)是运动神经元病(motor neuron disease,MND)最常见的类型,其病理特征为脊髓前角细胞和锥体细胞选择性死亡.临床上常见肢体无力、肌肉萎缩、构音不清、进食咳呛、肌束震颤、肌张力增高、反射亢进、病理征阳性等不同表现.上、下运动神经元同时损害为其临床特征.     

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。     

马德拉斯运动神经元病的临床特点分析

目的探讨马德拉斯运动神经元病(Madras motor neuron disease,MMND)患者的诊断要点、鉴别诊断及治疗方法,提高对MMND认识。方法回顾性分析3例MMND患者的临床资料,与国外MMND患者在临床特点上进行比较,并复习相关文献。结果本组3例患者均中青年起病,主要的临床表现为多组脑神经支配肌受损和肢体的无力、萎缩。其中双侧面肌无力和萎缩、构音障碍最为常见,2例出现舌肌萎缩及震颤,1例有吞咽困难。肢体无力和萎缩上肢较下肢常见。所有患者均有上运动神经元损害的体征。血清肌酸激酶增高1例。肌电图均表现为广泛神经源性损害。临床上MMND应与肌萎缩侧索硬化、肯尼迪病、Brown-Vialetto-van Laere综合征等相鉴别。静脉注射丙种球蛋白可能对MMND有一定疗效。与国外患者相比,本组患者以对称的面肌无力起病较常见而无听力损害。结论 MMND通常表现为累及四肢、面部及球部肌肉的无力萎缩、锥体束征和听力损害。我国MMND患者与国外患者在某些临床表现上略有差别。     

肌萎缩侧索硬化综合征与甲亢:经抗甲亢治疗痊愈

甲亢出现类似肌萎缩侧索硬化(SLA)综合征者文献仅有4例报告.本文报告1例在内分泌征出现前数月即有神经肌肉症状,经抗甲亢治疗后痊愈.62岁男性,右利,因四肢力弱上肢尤甚,胆结石术后无力加重一年入院.检查高级功能正常,除舌肌肌束震颤外颅神经正常.四肢力弱上肢明显,三角肌及双手肌萎缩,深反射活跃,双侧Babinski征     

中国肌萎缩侧索硬化诊断和治疗指南

运动神经元病是一种病因未明、主要累及大脑皮质、脑干和脊髓运动神经元的神经系统变性疾病,包括肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)、进行性肌萎缩、进行性延髓麻痹和原发性侧索硬化4种临床类型.ALS是运动神经元病中最常见的类型,一般中老年发病多见,以进行性加重的骨骼肌无力、萎缩、肌束颤动、延髓麻痹和锥体束征为主要临床表现,生存期通常3～5年. ALS的早期临床表现多样,缺乏特异的生物学确诊指标.详细的病史、细致的体检和规范的神经电生理检查对于早期诊断具有关键性的作用,影像学等其他辅助检查在鉴别诊断中具有一定价值.临床诊断过程中,确定上、下运动神经元受累范围是诊断的关键步骤,根据患者所出现症状、体征的解剖部位,通常将受累范围分为脑干、颈段、胸段和腰骶段4个区域.     

成人型近端脊髓性肌萎缩症的临床和肌肉病理学研究

目的 总结成人型近端脊髓性肌萎缩症(ASMA)临床和肌肉病理学特征，以提高对ASMA的认识。方法 对27例完成肌肉活检的ASMA患者进行临床及肌肉病理学分析。结果 该病多于45岁左右发病，起病及进展均缓慢，主要表现为近端肌肉无力、肌肉萎缩、肌束震颤，锥体束和周围神经一般不受累。4例患者肌酶增高。所有患者肌电图检查示神经源性损害，其中2例伴肌源性改变。肌肉活检光镜下见神经源性肌萎缩，其中3例伴肌源性损害。电镜下见肌原纤维数量减少、排列紊乱、部分断裂，Z线变粗或呈波浪样以及肌核聚集。结论 结合临床表现进行肌肉活检对ASMA诊断及鉴别诊断具有重要价值。     

肌萎缩侧索硬化与脊髓型颈椎病的鉴别诊断

目的　探讨肌萎缩侧索硬化 (ALS)与脊髓型颈椎病 (CSM )早期临床鉴别诊断方法。方法　回顾性对临床确诊的 36例ALS和 2 2例CSM主要症状 /体征、辅助检查异常率进行比较。结果　除肌无力为两病共同的常见症状和体征外 ,肌萎缩、肌束震颤、感觉异常、病理征阳性率皆有显著性差别 ;ALS不存在客观感觉障碍 ,CSM不存在构音 /吞咽障碍和掌颏反射阳性。运动单位减少 ,波幅增高 ,时限增宽 ,纤颤电位增多 ,感觉传导速度和体感诱发电位正常 ,胸锁乳突肌EMG异常均利于ALS诊断。结论　在临床早期 ,通过识别关键性的症状、体征 ,结合电生理等实验室检查 ,可以对ALS和CSM作出正确的鉴别诊断     

ALS诊断中需要注意的问题

<正>肌萎缩侧索硬化(Amyotrophic lateral sclerosis,ALS)是成人运动神经元病(motor neuropathy)中最常见的形式,年发病率为2/10万～3/10万。主要的病理特征为脊髓前角的a运动神经元、大脑皮质的Betz细胞及脑干的运动神经核(眼肌运动神经核除外)的神经元丢失,皮质脊髓束和皮质脑干束变性。临床表现为肌肉无力、肌肉萎缩、肌束震颤及肌张力增高、腱反射亢进、病理征(+),一般无感觉异常及大小便障碍。发病机制不清,缺乏有效的治疗方法,患者的存活期仅有3～5年。本文仅就诊断过程中需要注意的问题加以综述。     

肌萎缩侧索硬化合并颈椎病的临床特点分析

目的:探讨肌萎缩侧索硬化ALS合并颈椎病患者的临床特征。方法:对75例ALS患者的临床资料进行回顾性分析,并对合并颈椎病的ALS患者与未合并颈椎病的ALS患者的临床特点进行比较。结果:合并颈椎病的ALS患者与未合并颈椎病的ALS患者的发病年龄、性别比例与临床特点差异均无统计学意义。结论:ALS可以并合颈椎病,颈椎病对ALS的发病年龄、临床特点无明显影响。     

肌萎缩侧索硬化60例临床分析

目的探讨肌萎缩侧索硬化(ALS)的临床特征,为进一步研究其病因、发病机理和治疗提供临床数据支持。方法记录60例确诊或拟诊的ALS病人临床资料,并对临床症状、体征及实验室检查数据进行统计学处理分析。结果平均发病年龄44.63±10.27岁,比西方国家发病年龄早。男女发病率之比是1.91。ALS症状进展从原发部位逐渐向水平或垂直方向波及临近部位。ALS患者血清IgG、IgM未见明显异常,而IgA、C3、C4明显升高。结论ALS是一种与年龄相关,好发于男性的疾病,疾病进展遵循一定规律。免疫系统参与了ALS的发病过程。     

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。     

以胸髓前角先受累的肌萎缩侧索硬化的临床特点

目的探讨胸髓前角先受累的肌萎缩侧索硬化(ALS)患者的临床特征。方法回顾性分析3例以胸髓前角先受累的ALS患者的临床资料。结果3例患者均为男性,发病年龄分别为52岁、66岁、62岁;均以呼吸困难为首发表现,有明显的肋间肌和腹直肌萎缩,而肢体肌无力及肌萎缩的出现相对较轻、较迟;肌电图显示上肢及椎旁肌的神经源性损害。结论以胸髓前角先受累的ALS患者以男性多见,起病年龄晚于ALS的平均发病年龄,呼吸困难明显,呼吸肌萎缩早于肢体肌无力及肌萎缩,肌电图检查可以确诊。     

The ALS patient care database: goals, design, and early results. ALS C.A.R.E. Study Group

OBJECTIVE: The ALS Patient Care Database was created to improve the quality of care for patients with ALS by 1) providing neurologists with data to evaluate and improve their practices, 2) publishing data on temporal trends in the care of patients with ALS, and 3) developing hypotheses to be tested during formal clinical trials. BACKGROUND: Substantial variations exist in managing ALS, but there has been no North American database to measure outcomes in ALS until now. METHODS: This observational database is open to all neurologists practicing in North America, who are encouraged to enroll both incident and prevalent ALS patients. Longitudinal data are collected at intervals of 3 to 6 months by using standard data collection instruments. Forms are submitted to a central data coordinating center, which mails quarterly reports to participating neurologists. RESULTS: Beginning in September 1996 through November 30, 1998, 1,857 patients were enrolled at 83 clinical sites. On enrollment, patients had a mean age of 58.6 years +/-12.9 (SD) years (range, 20.1 to 95.1 years), 92% were white, and 61% were men. The mean interval between onset of symptoms and diagnosis was 1.2+/-1.6 years (range, 0 to 31.9 years). Riluzole was the most frequently used disease-specific therapy (48%). Physical therapy was the most common nonpharmacologic intervention (45%). The primary caregiver was generally the spouse (77%). Advance directives were in place at the time of death for 70% of 213 enrolled patients who were reported to have died. CONCLUSIONS: The ALS Patient Care Database appears to provide valuable data on physician practices and patient-focused outcomes in ALS.     

Brain white matter diffusion tensor metrics from clinical 1.5T MRI distinguish between ALS phenotypes

Patients with amyotrophic lateral sclerosis (ALS) can present with varying degrees of upper motor neuron (UMN) and lower motor neuron dysfunction. Previous diffusion tensor imaging (DTI) studies, in which ALS patients were not separated by the degree of UMN dysfunction, have resulted in conflicting or inconclusive results. We hypothesized that (1) categorizing ALS patients by their clinical phenotype can reveal differences in DTI abnormalities along the corticospinal tract (CST), and (2) data obtained from routine clinical DTI scans can provide this type of information. Clinical DTI scans were obtained at 1.5T in 87 ALS patients (categorized into four subgroups based on clinical phenotype) and in 12 neurologic controls. Fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity values from the CST were compared between ALS subgroups and controls. Significantly reduced FA and elevated MD values were observed in ALS patients compared to controls at the subcortical motor cortex level. Significant differences in AD values were not only seen between control and ALS patients but also between the ALS subgroups, suggesting divergent pathologies in these ALS patients. Classifying ALS patients by phenotype reveals differences in CST abnormalities between subgroups and may provide novel insights into disease mechanisms. The close similarity of our results from routine clinical scans with published research studies suggests wider accessibility to useful DTI metrics.     

连枷臂综合征临床与病理分析

目的研究连枷臂综合征(FAS)的临床和病理特点。方法回顾性收集整理90例肌萎缩侧索硬化患者的临床资料,从中筛选出FAS患者,并总结分析其临床表现、实验室检查、电生理及活检骨骼肌病理特点。结果 90例肌萎缩侧索硬化患者中有8例为连枷臂综合征。连枷臂综合征患者主要临床特征为对称性双上肢肌无力和肌萎缩;血肌酸激酶正常或轻中度升高;肌电图显示脊髓4个节段中3个或以上支配区出现纤颤、正相波,动作单位电位增宽、增高。活检骨骼肌主要病理表现为小角化肌纤维、肌原纤维网紊乱、"靶纤维"。结论连枷臂综合征是肌萎缩侧索硬化的临床变异型,电生理检查能发现亚临床脊髓受累,有助于连枷臂综合征的诊断和鉴别诊断。     

Epidemiology of amyotrophic lateral sclerosis in Isfahan,Iran

Background: Few studies are carried out on the epidemiology of amyotrophic lateral sclerosis (ALS) in Middle East with no reports from Iran. Objective: To determine the epidemiological and clinical features of ALS amongst the Iranian population living in Isfahan, Iran. Methods: Medical records of all hospitals with a neurology department and outpatient neurology clinics in Isfahan province from 2002 to 2006 were reviewed, and all patients with the diagnosis of ALS according to El Escorial diagnostic criteria were extracted and related demographic and clinical data were gathered and analyzed. Results: We found 98 new patients (66 men and 32 women) with definite, probable, or possible ALS. The average annual incidence was 0.42/100 000, with the highest incidence rate amongst those aged 70–74. On 21 March 2006, the crude prevalence was 1.57/100 000. Median survival from onset was 48 months (95% confidence interval 34–61) and survival rates for 1, 3,and 5 years after the onset were 94%, 66%, and 32%, respectively. Conclusions: The incidence and prevalence of ALS in the Iranian population seems to be lower compared to other populations and the survival of patients was longer than previously reported.     

Apport de l’électromyogramme dans le diagnostic précoce des SLA à début bulbaire : comparaison des critères d’El Escorial,d’El Escorial modifiés et d’Awaji

Introduction

Diagnosis of bulbar ALS is difficult at the early stage of the disease. According to guidelines, early diagnosis is better in view to optimize the management of affected patients. To improve the sensitivity without losing specificity of the prior criteria, the Board of Awaji has proposed modified electrodiagnostic criteria for ALS. The aim of this study was to evaluate the contribution of needle electromyography in early diagnosis of bulbar ALS by comparing the El Escorial criteria (EEC), Revised El Escorial Criteria (R-EEC) and Awaji algorithm (AA).

Methods

In a retrospective study, we analysed clinical and electrophysiological data of 46 patients followed in our center for a bulbar-onset ALS seen for the first time between January 2007 and February 2011. All these patients had bulbar-onset ALS probable or certain at the last follow-up. All data were collected during the first clinical examination and the first electrophysiological study.

Results

Mean age of the population was 69 (37–90 years, sex ratio: 0.91). Using the EEC, 9 patients were diagnosed as definite or probable ALS at the first consultation. Applying the R-EEC, 13 patients were diagnosed as definite or probable ALS and using the AA, 23 patients were diagnosed as definite or probable ALS. The sensitivity of the EEC was 19.5%, the R-EEC was 28.2% and for AA was 49.98%.

Conclusion

AA are more sensitive in early diagnosis of bulbar ALS compared to R-EEC with the contribution of ENMG and when fasciculations are considered as evidence of spontaneous activity. Such an approach can contribute to accelerate an optimal management of the disease. AA are a breakthrough in the diagnosis of ALS especially in the bulbar-onset forms.     

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations

Background and purpose:  Increasing evidence suggests a direct role of the TAR DNA-binding protein 43 (TDP-43) in neurodegeneration. Mutations in the TARDBP gene, which codes for TDP-43, have been recently reported in familial and sporadic amyotrophic lateral sclerosis (ALS) cases.
Methods:  To further define the spectrum and frequency of TARDBP mutations, we present genetic analysis data on TARDBP in 314 ALS mainly Italian patients, including 16 subjects with non-SOD1 familial ALS.
Results:  We identified four heterozygous missense mutations in five unrelated ALS patients (1.6%). Two of these mutations (p.G348C and p.A382T) were detected in carriers coming from families with an autosomal dominant transmission of different geographic origin (Belgian and Italian, respectively). The Belgian pedigree showed several affected members within five generations and with variable clinical features. Two novel mutations (p.G294V and p.G295S) were identified in two sporadic cases.
Conclusion:  The identification of five ALS patients carrying TARDBP alterations extends the spectrum of TARDBP mutations and supports the pathological role of TDP-43 in motor neurone disease. Our findings provide evidence that TARDBP mutations are not frequent in Italian sporadic ALS patients (1%); however, combined with the literature, our data further support TARDBP mutations as a relevant cause of familial ALS.