95例运动神经元病的临床特征

目的 了解运动神经元病的临床特点.方法 回顾性分析95例运动神经元病患者的发病特点、病情进展模式及相关检查,对其进行总结分析以提高早期诊断识别率.结果 95例患者中ALS 73例(76.8％),PLS 1例(1.1％),PMA 13例(13.7％),PBP 8例(8.4％);平均发病年龄为48.85±11.02岁.上肢无力或肌萎缩首发者44例(46.3％),下肢无力或肌萎缩首发者24例(25.3％),以四肢无力或肌萎缩首发者10例(10.5％),以球麻痹症状首发者17例(17.9％).男女比例为1.26∶1.女性患者较男性更易出现球麻痹或以其作为首发症状(P＜0.05).结论 MND发病男性多于女性,起病以颈段最多,ALS最常见,电生理检测对本病诊断意义重大,需按照诊断标准进行规范的鉴别诊断以排除其他疾病.     

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.     

肌萎缩侧索硬化三例误诊分析

目的掌握肌萎缩侧索硬化(ALS)的诊断标准,以便早期准确诊断,避免误诊。方法分析3例ALS患者早期被误诊的临床资料。结果 3例患者均以下肢无力发病,逐渐波及上肢或对侧肢体,脊柱MR I示颈部或腰部椎间盘突出压迫硬膜囊,手术治疗后,症状无缓解,病情仍进行性加重,经肌电图检查证实为ALS。结论临床医师应熟知ALS的诊断标准,对患者详细询问病史、认真查体和电生理检查是减少ALS误诊的关键。     

貌似运动神经元病的副肿瘤综合征10例的临床、电生理及病理特点

运动神经元病(motorneurondiseases ,MND)是一组病因和发病机制尚不完全清楚的慢性进行性神经系统变性病。少部分患者可伴有恶性肿瘤,称为MND或肌萎缩侧索硬化综合征(amytrophiclateralsclerosis ,ALS综合征) ,其机制可能是肿瘤导致的远隔效应,或肿瘤产生的副蛋白导致免疫反应的结果[1 3] 。现将我院1999～2 0 0 2年收治的10例貌似MND/ALS综合征合并肿瘤的病例报道如下。资料和方法10例患者中男8例,女2例,男∶女为4∶1;发病年龄为33～75岁,平均年龄(5 5 6±12 0 )岁;病程6～4 8个月,平均(2 3 8±11 0 )个月。MND/ALS综合征的诊断…     

多灶性运动神经病5例分析及文献回顾

目的探讨多灶性运动神经病(MMN)的临床和电生理特点及诊断标准。方法分析我院收治的5例MMN患者的临床表现,电生理改变,实验室检查结果及治疗情况,并结合相关文献报道综合分析。结果5例病例均为男性患者,发病年龄在28～42岁,均以单肢无力为首发症状,远端重于近端;3例伴有肌肉萎缩;5例均无感觉障碍,腱反射减低,无病理反射;肌电图及神经传导速度检查提示神经源性损害,无巨大电位,3例出现了典型的运动神经多发传导阻滞(CB);4例经免疫球蛋白治疗后有不同程度好转。结论MMN的诊断应注意与慢性格林巴利(CIDP)及运动神经元病(MND)相鉴别,结合临床及电生理特点综合分析,以免误诊。     

肌萎缩侧索硬化患者神经传导分析

目的分析肌萎缩侧索硬化(ALS)患者的神经传导特点,并探讨神经传导与不同起病部位之间的关系。方法收集于2012年1月至2014年12月期间我院门诊或病房收治的ALS患者47例和体检的健康对照组40例,均测定其运动及感觉神经传导、F波。结果ALS患者运动神经传导检测表现为潜伏期(DML)延长,复合肌肉动作电位(CMAP)波幅下降,传导速度(MCV)减慢,其中以CMAP波幅下降为主。可见"分裂手"和"分裂足"现象。部分病人的症状、体征或电生理出现感觉神经受累证据。部分病人的F波出波率异常。结论诊断ALS需对临床和神经电生理进行综合分析,不能仅凭其中一项而轻易排除诊断。临床医生,特别是基层医院医生,要全面细致地完善辅助检查结果,减少漏诊和误诊的发生。     

运动神经元病中神经电生理研究现状和进展

运动神经元病(motor neuron disorder,MND)是一组以上下运动神经元同时或分别受累为主要表现的神经系统变性病,目前尚无特效治疗方法,其中以肌萎缩侧索硬化(amyotrophic lateralsclerosis,ALS)最为常见,目前有关MND的电生理研究主要针对ALS。另外三型包括进行性肌萎缩(progressive muscular atrophy,PMA)、原发性     

肌萎缩侧索硬化与重症肌无力共病1例报道并文献复习

目的 认识肌萎缩侧索硬化(Amyotrophic lateral sclerosis,ALS)与重症肌无力(Myasthenia gravis,MG)共病的特点。方法 报道1例ALS与MG共病的患者,并通过检索文献数据库进行文献复习。结果 结合本病例以及文献检索,明确诊断为ALS合并MG患者共计28例; 根据MG确诊和ALS确诊的先后关系分为以ALS首先确诊组(ALS后MG组,10例)和以MG首先确诊组(MG后ALS组,18例); 男性患者发病率较高(男:女=18:10); MG平均发病年龄60.8岁,ALS平均发病年龄64.6岁; 平均发病时间的间隔时间53.1个月; ALS以肢体起病或者球部合并肢体症状为主(82.1%,23/28); MG症状主要累及眼部(82.1%)、球部(46.4%); 19例患者抗乙酰胆碱受体(Anti-acetylcholine receptor,AchR)抗体阳性(67.9%),3例患者抗低密度脂蛋白受体相关蛋白4(Anti-low-density lipoprotein receptor-related protein 4,LPR4)抗体阳性(10.7%); 4例患者胸腺异常(14.3%); 与ALS后MG组比较,MG后ALS组患者具有ALS发病年龄(平均年龄68.5岁)明显延迟、发病间隔时间长、病情进展相对缓慢等特点。结论 MG和ALS之间的联系提示免疫反应可能参与了ALS的病理生理过程。     

运动神经元病血清抗神经节苷脂抗体的检测

对运动神经元病（MND）的病因目前尚无统一认识。我们对MND患者血清中的抗GM1抗体进行了检测。资料和方法：患者血清均来自北京协和医院神经科门诊及住院患者。包括MND组26例，年龄3－60岁，其中男性16例，女性10例。MND临床分型：肌萎缩侧索硬化（ALS）16例，脊肌萎缩症（SMA）7例，延髓麻痹（PBP）3例。疾病对照组为其他神经系统疾病（OND）10例（其中脑血管病4例，颈椎病3例，血管性头痛3例）及非神经系统免疫性疾病（NID）7例（包括系统性红斑狼疮3例，多发肌炎2例，重症肌无力2例）。健康对照（NC）30名，为血库献血员。…     

首发以缺血性脑血管病为表现的主动脉夹层分析

目的分析主动脉夹层(AD)以缺血性脑血管病(ICVD)为首发表现的病因及临床特点,探讨其机制,提高临床医生对该病的认识。方法对本院5年中以ICVD为首发表现AD及所有AD合并ICVD进行临床分析。结果AD患者中合并脑血管病症状发生率为8/46(17.39%),均为ICVD,其中以ICVD为首发5/46(10.87%),误诊3例,误诊率为3/46(6.52%)。结论对于脑血管病患者合并突发疼痛、晕厥或休克,应及时行进一步检查,以排除AD。     

Anterior cysts of the spine

We describe three patients referred to our ALS/MND clinic with suspected diagnosis of amyotrophic lateral sclerosis (ALS). The patients were all male, middle aged, and their initial symptoms were weakness and fasciculations in upper limb muscles. Results of clinical and electrophysiological examination in all cases were in accordance with possible ALS according to the revised El Escorial criteria. Other conditions mimicking ALS appeared to be excluded by extensive technical examinations and laboratory tests. Only repeated MRI examinations revealed anterior spinal cysts several years after symptom onset. This report intends to highlight this rare and difficult differential diagnosis of ALS and underlines the value of the revised El Escorial criteria in conjunction with electrophysiology to asses the certainty of the diagnosis ALS.     

Clinical and epidemiological features of motor neuron disease in south-western Greece

OBJECTIVE: To evaluate the epidemiological and clinical features of motor neuron disease (MND) in a region (835,000 inhabitants) of south-western Greece. PATIENTS AND METHODS: The medical records of all patients diagnosed with adult-onset MND at the Department of Neurology of the University Hospital of Patras from 1990 to 2003 were reviewed. RESULTS: Overall 133 patients were identified, corresponding to a mean annual incidence rate of 1.13/100,000 population with male preponderance. Eighty-five of them were males (63.9%) and 48 (36.1%) females with a mean age of 61.4 +/- 13.3 years. The most common type of MND was amyotrophic lateral sclerosis (ALS) being identified in 111 (83.5%) patients, whereas 19 cases (14.3%) were classified as progressive spinal muscular atrophy (PSMA) and three (2.2%) cases as progressive bulbar palsy (PBP). The mean age at onset was 60.3 +/- 13.5 years, while the mean delay between age at onset and age at diagnosis was 1.3 +/- 1.1 years. The symptoms at onset involved the lower limbs in 76 (57.2%) cases, upper limbs in 32 (24%) cases, bulbar region in 22 (16.5%) cases and respiratory muscles in three (2.3%) cases. The mean survival time after onset of disease was 20.4 +/- 8.3 months for ALS patients, 15.3 +/- 4.5 months for PBP and 38.1 +/- 26.4 months for PSMA patients. CONCLUSIONS: There was no statistically significant difference in the results of the considered epidemiological parameters of our study to those reported by other similar studies. The study of the patients with MND showed a predominance of ALS patients. No potentially causative clinical associations were found and no relation between socioeconomic factors, occupational exposure and the disease was noted.     

麻痹性痴呆误诊的原因分析

目的探讨麻痹性痴呆易被误诊的可能原因,提高临床诊断率。方法回顾性分析14例曾被误诊的麻痹性痴呆患者的临床资料。结果以不典型的精神症状群首发而被误诊为功能性精神障碍10例,其中误诊例次率最高的是精神分裂症占47．3％,其次是躁狂症占31．6％;以进行性加重的痴呆为主要首发症状而被误诊为阿尔兹海默病的2例及血管性痴呆1例;以酒依赖伴有痴呆样症状为主被误诊为酒精所致精神障碍的1例。〈40岁的占总数的28．5％。否认或故意隐瞒治疗史9例,根本不知情5例。误诊时处于发病早期无神经系统的阳性体征8例;处中晚期有神经系统阳性体征且呈不同程度表现的共6例,其中仅1例伴有特异性阿-罗氏瞳孔特征。14例辅助检查均不够完善,均未及时进行相关梅毒血清学检查。结论麻痹性痴呆易被误诊的首要原因是首发精神症状不典型,其次是冶游史易被隐瞒、早期神经系统阳性体征不明显或中晚期缺乏阿-罗氏瞳孔特异性体征、辅助检查不够完善和及时。     

肌萎缩侧索硬化症的院前误诊分析

目的 回顾分析115例肌萎缩侧索硬化症患者院前误诊情况，加深对该病临床特点的认识，减少误诊，实现尽早诊断和尽早治疗，方法收集北京大学第三医院2003年1月-2005年3月全部诊断为运动神经元病住院患行的临床资料，按照肌萎缩侧索硬化症的诊断标准（修订版）对所有患者进行严格诊断，将其中“确诊为肌萎缩侧索硬化症”和“很可能肌萎缩侧索硬化症”（包括很可能和实验室支持的很可能）115例患者作为观察对象。结果 115例患者中符合“确诊”标准者74例，“很可能”标准41例；平均诊断间期为14．80个月，平均误诊间期6．40个月。其中误诊者72例，未误诊28例，余15例为我院首诊患者，无一例误诊，院前误诊率为72．00％（72／100）。“确诊”和“很可能”患者的误诊率分别为72．31％和71．43％，二者相比差异显著件意义（P〉0．05）：症状首发部位分别为球部合并上肢（5例）、单侧上肢（49例）、单侧下肢（15例）以及偏侧上下肢者（2例），共71例，其误诊率达80．28％（57／71）。在误诊病种中，以颈椎病最为多见，其次为脑血管疾病：北京市与外埠患者的误诊率分别为50．00％（13／26）和79．73％（59／74），二者相比差异具有显著性意义（P〈0．05）。80％以上误诊发生于基层医院，最终明确诊断局限于教学医院。结论 引起肌萎缩侧索硬化症误诊的原因除疾病本身具有临床较少见的特点外，医生对其认识不足亦是发生误诊的重要因素之一，故提高医生对该病的了解并加强专业修养，是降低肌萎缩侧索硬化症误诊率的有效方法和必要手段。     

肌萎缩侧索硬化的锌指蛋白512B基因和转化生长因子-β研究进展

肌萎缩侧索硬化(ALS)是运动神经元病的最常见临床类型,是一种选择性累及运动神经元和进行性恶化的神经系统变性疾病,生存期较短,从症状出现到死亡一般不超过5年。文中回顾ALS发病以及预后相关的基因,评估从全基因组关联研究中收集到的信息。并详细介绍近年ALS基因研究中新的热点基因——锌指蛋白512B(ZNF512B),包括其发现历程及与临床预后的相关性,并探讨该基因如何影响ALS发病及进展。     

Epidemiology of motor neuron disease in northern Sweden

All cases of motor neuron disease (MND), encompassing amyotrophic lateral sclerosis (ALS), progressive bulbar paralysis (PBP) and progressive spinal muscular atrophy (PSMA), in northern Sweden, diagnosed between 1969-1980 have been analysed. 128 cases were found, corresponding to an average annual incidence rate of 1.67 per 100,000. The prevalence on December 31, 1980 was 4.8 per 100,000. Age-specific incidence rates were higher in the high age groups with a maximum at 60-64 years for males, at 70-74 years for females and at 65-69 years for the sexes combined. The median age at onset was 61 years. Clustering was not found in mining districts and overrepresentation of miners and stone treaters was not observed. Minor differences in incidence rates, as measured by the standardized morbidity ratio, SMR, were found between the inland, coastal and mountain areas. The median survival time after onset of disease was 32 months for ALS, 30 months for PBP and 70 months for PSMA. The combined survival rate for all MND cases was 28% after 5 years and 15% after 10 years. The male to female ratio was 1.1:1, and 4.7% were familial cases.     

14例颅内静脉窦血栓形成临床特征分析

目的探讨颅内静脉窦血栓形成患者的临床特征。方法回顾性分析14例CVST患者的临床资料。结果本组患者男性2例,女性12例;年龄15-55岁,平均年龄32±5岁。12例有明确病因,多数以急性、亚急性起病。首发症状以头痛多见,临床表现以颅高压三主征及皮层功能损害的局灶症状体征为主。缓慢起病者确诊时间延长。疾病易误诊为单纯的脑出血、脑梗死等。影像学表现为静脉窦闭塞及以皮质为主的梗死或水肿,可伴出血。治疗以抗凝、脱水为主。4例治愈,5例好转,5例死亡。结论 CVST患者临床差异较大,缺乏特异性,需要综合分析避免漏诊和误诊,及早行MR I+MRV检查,及早抗凝。     

Longitudinal analysis of age at onset and initial symptoms in patients with amyotrophic lateral sclerosis]

To investigate the longitudinal changes in age at onset and the initial symptom of patients with sporadic amyotrophic lateral sclerosis (ALS), we performed a single hospital-based retrospective study over the past 38 years. A total of 280 sporadic ALS patients (169 men and 111 women) hospitalized in our department between 1965 and 2003 were investigated in this study. The clinical features including age at onset and the initial symptom of these patients were obtained from medical records. All the patients underwent an intensive diagnostic evaluation including electrophysiological examination, laboratory examinations of blood and cerebrospinal fluid, and neuroimagings of the brain and spinal cord to exclude other conditions similar to ALS. The mean age at onset was 58.3 +/- 11.3 years and age at onset significantly increased at the rate of 0.459 years per year (r = 0.406, p< 0.001). The percentage of patients whose age at onset was > or = 70 years has increased from 3.0% (1980-1984) to 31.1% (2000-2003). To investigate the initial symptom of senile-onset ALS, patients whose age at onset was > or = 70 years were analyzed. The percentages of bulbar palsy-onset patients with onset in terms of age were 62.5% (30/48 patients; > or = 70 years) and 23.3% (54/232 patients; <70 years). The odd ratio for bulbar palsy was 5.40 (95% confidence interval, 2.79-10.44). Taken together, our study demonstrates that the ratio of senile-onset ALS has significantly increased, and that there were more bulbar palsy-onset patients among the patients.     

Demographic characteristics and prognosis in a Flemish amyotrophic lateral sclerosis population

We describe the genetic and demographic characteristics of patients with amyotrophic lateral sclerosis (ALS) in Flanders, Belgium. Prognostic factors related to survival are examined. ALS was familial in 8.6% of all MND patients. In 6 of 8 apparently unrelated families, an SOD1 mutation was found. In sporadic ALS, mean age at onset was 57.1 years. There was a male preponderance (1.2:1) and the disease had a bulbar onset in 19%. Median survival was 32 months (95% CI 26-46). The presence of an APOE-epsilon 4 allele was not associated with a bulbar onset of ALS, an earlier age at onset or a shorter median survival. Variables examined in a multivariate analysis included age, sex, site of onset, delay from onset to diagnosis, and % forced vital capacity. Shorter survival was independently associated with higher age, bulbar onset, a short diagnostic delay, and a lower percent-predicted vital capacity at study entry. Simple clinical baseline characteristics can assist the clinician in estimating prognosis in ALS. The demographic characteristics of the Flemish ALS population do not seem to differ from those described in other parts of the world.