平山病的临床、电生理及影像学特点

目的 探讨平山病的临床、电生理及影像学特点.方法 回顾性分析8例平山病患者的临床资料.结果 本组患者均为男性,发病年龄14～ 26岁;主要表现为上肢远端的肌无力和肌萎缩;6例为单侧上肢受累;部分肌萎缩使前臂呈现“斜坡”样的特殊形状.肌电图示局限于上肢相应阶段的脊髓前角细胞损害;颈椎自然位MRI示C5～T1椎体水平脊髓萎缩、变扁,过屈位MRI可见颈髓向前移位,硬脊膜外腔增宽.本组患者均采用颈托治疗并定期随访,病情均处于稳定状态.结论 平山病男性多见,一般20岁以前隐袭起病;主要表现上肢远端肌无力、肌萎缩;肌电图改变为下颈段脊髓前角损害;MRI示下颈段脊髓萎缩.     

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。     

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。     

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。     

Nonaka肌病伴面部肌肉受累

目的 报道1个伴随面部肌肉受累及的Nonaka型远端性肌肉病家系的临床和病理特点，讨论其发病机制。方法 先证者在中年早期起病。主要临床表现为胫前肌为主的四肢远端肌无力和肌萎缩，伴随有面肌和胸锁乳突肌力弱以及眼睑下垂，股四头肌不受累。肌酶轻度升高。肌电图提示肌源性损害。对患者进行胫前肌活检，进行组织学，酶组织化学和超微结构检查。家族中其妹妹也具有相同的临床表现。出现下肢远端为主的肌无力和肌萎缩。结果 肌肉病理改变特点是出现肌纤维肥大和萎缩。伴随核内移和肌纤维分裂现象。在部分肌纤维内可见镶边空泡和胞浆体。电镜下可见肌纤维内和核内的管丝包涵体以及髓样小体，其中出现在膜下的管丝包涵体具有细胞核的轮廓，可以看到细胞核变性后形成致密破碎结构。结论 结合患者的家庭史，临床表现和病理学改变特点。此患者可以考虑为Nonaka肌病，我们证实此病可以伴随面部肌肉的受累及。其发病机制可能与肌核的变性有关。     

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。     

脊髓延髓肌萎缩症临床及电生理特点分析

目的分析5例脊髓延髓肌萎缩症患者的临床特征,以便临床医生对该病的认识。方法收集基因确诊的5例脊髓延髓肌萎缩症患者的临床资料,分析其临床特点及血清性激素、各生化指标水平、脑脊液及肌电图特点。结果脊髓延髓肌萎缩症患者青年发病,病情进展缓慢。神经系统表现为以肢体近端和延髓部受累为主的瘫痪。舌肌受累较早,运动功能损害较轻。血清睾酮(969.3±234.9ng/dl)、雌二醇(57.1±5.3pg/ml)水平增高,男性乳腺发育出现在病史较长的患者。三核苷酸(CAG)重复序列数目43～51(平均47.2±3.6pg/ml)。患者的肌酸激酶(CK,481.8±264.8 IU/L)均增高,脑脊液检查均正常。肌电图为广泛神经源性损害。结论脊髓延髓肌萎缩症患者的早期症状不典型,易误诊,临床特征为青年起病,缓慢加重,以肢体近端无力为主的瘫痪。     

肌萎缩侧索硬化症临床与电生理

目的:探讨肌萎缩侧索硬化症的临床与肌电图特点;方法:对30例肌萎缩侧索硬化症的临床及肌电图进行分析总结;结果:肌萎缩侧索硬化症表现为上下运动神经元同时受累,肌无力、肌萎缩、肌束颤动,伴腱反射亢进、病理征等,无感觉障碍,肌电图特点为广泛分布(多个肢体)的神经源性损害。结论:根据临床及肌电图并除外其它疾病时本病可确诊,肌电图的广泛神经源性损害有助于该病的早期诊断。     

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。     

Spinal cord neurofibrillary tangles of Guamanian amyotrophic lateral sclerosis and parkinsonism-dementia complex: an immunohistochemical study

We studied the topographic distribution and immunohistochemical characteristics of spinal cord neurofibrillary tangles (NFTs) in 6 patients with Guamanian amyotrophic lateral sclerosis (ALS) and 6 patients with parkinsonismdementia complex (PD) on Guam, using antibodies to tau protein and ubiquitin. The NFTs were immunoreactive with both antibodies, but staining for tau was more pronounced. As identified by this reactivity, all the Guamanian ALS and PD cases examined showed spinal cord NFTs. The posterior horn had the most and the anterior horn the least. In the posterior horn the NFTs were located mainly in the marginal areas. Large anterior horn cells showed few, if any, NFTs. In addition to perikaryal NFTs, we observed tau-reactive neurites. Our results provide evidence that spinal cord NFTs are not uncommon in Guamanian ALS and PD on Guam and that they are more numerous than previously found with conventional methods.     

Cervical spondylotic amyotrophy presenting as dropped head syndrome

We report a case of acute-onset dropped head syndrome in a 65-year-old patient in whom the diagnosis of amyotrophic lateral sclerosis (ALS) was initially proposed based on electromyographic signs of neck and shoulder muscle denervation. There were no signs of pyramidal involvement and the clinical and electromyographic signs of motor denervation never evolved beyond the neck and shoulder girdle muscles after a 6-year follow-up period, which argued against ALS. Other causes of dropped head syndrome were carefully ruled out based on clinical findings, electrodiagnostic studies and blood investigations. The restriction of muscle denervation to a few cervical myotomes, the presence of C3–C4 spondylotic changes without associated root or spinal cord compression, and the absence of an alternative explanation to the patient's symptoms strongly supported the diagnosis of cervical spondylotic amyotrophy (CSA). CSA is thought to result from spinal cord microcirculatory disturbances and secondary anterior horn cell degeneration due to ischemia. Our case enlarges the clinical spectrum of focal cervical anterior horn disease, which classically results in more distal monomelic atrophy affecting one or both upper limbs.     

Beta-amyloid 42 accumulation in the lumbar spinal cord motor neurons of amyotrophic lateral sclerosis patients

Amyotrophic lateral sclerosis (ALS) is characterized by a progressive loss of large motor neurons in the brain and spinal cord. Amyloid precursor protein (APP), the transmembrane precursor of beta-amyloid (A beta), accumulates in the anterior horn motor neurons of ALS patients with mild lesions. APP undergoes an alternative proteolysis mediated by caspase-3, which is activated in motor neurons in a mouse model of ALS. The ALS spinal cord motor neurons also show evidence of increased oxidative damage, which is thought to alter APP processing. We sought to determine whether A beta42, the more pathogenic A beta species, accumulates in the postmortem lumbar spinal cord of ALS patients. While there was little or no A beta42 labeling in control spinal cord tissues, elevated A beta42 immunoreactivity occurred in ALS motor neuronal perikarya and axonal swellings in the anterior horn. A few A beta42-positive neurons exhibited thioflavine S staining. No extracellular A beta42 deposits were found. A beta42 coexisted with the oxidative damage markers malondialdehyde, 8-hydroxydeoxyguanosine, heme oxygenase-1, and nitrotyrosine in abnormal neurons. The neurons with intracellular A beta42 accumulation also displayed robust cleaved caspase-3 immunoreactivity. Very little A beta40 immunoreactivity occurred in motor neurons of both control and ALS. These results suggest that aberrant accumulation of A beta42 in ALS spinal cord motor neurons is associated with oxidative stress, and may play a role in the pathogenesis of neurodegeneration in ALS.     

Alteration in amino acids in motor neurons of the spinal cord in amyotrophic lateral sclerosis.

Little is known concerning the changes of amino acid composition in different regions of the spinal cord in patients with amyotrophic lateral sclerosis (ALS). We performed quantitative amino acid analyses in the posterior funiculus, the lateral corticospinal tract, and the anterior horn of cervical enlargement of the spinal cord from seven ALS patients, and the results were compared with those of seven patients with other neurologic diseases (control A) and seven patients without neurologic diseases (control B). The levels of collagen-associated amino acids, hydroxyproline, proline, glycine, and hydroxylysine, were markedly lower in the lateral corticospinal tract and the anterior horn of ALS patients than in controls A and B. The contents of the acidic amino acids glutamate and aspartate were also significantly decreased in the lateral corticospinal tract and the anterior horn of ALS patients as compared with those of controls A and B. These data suggest that decreased contents of collagen-associated amino acids and excitatory amino acids are related to the degeneration of the upper and lower motor neurons in the spinal cord in ALS.     

Collagen abnormalities in the spinal cord from patients with amyotrophic lateral sclerosis

During the last 10 years, we have demonstrated morphological and biochemical abnormalities of skin extracellular matrices in amyotrophic lateral sclerosis (ALS). However, currently little is known concerning collagen of the spinal cord in ALS. We measured the amount of collagen and characterized collagen at light and electron microscopic levels in posterior funiculus, posterior half of lateral funiculus and anterior horn of cervical enlargement of the spinal cord obtained from ten patients with ALS, 11 patients with other neurologic diseases (control group A), and ten patients without neurologic ones (control group B). In posterior half of lateral funiculus and anterior horn, (1) by light microscopy, there was no significant difference in vessel wall area between ALS patients and control groups A and B; (2) ultrastructurally, collagen bundles were more fragmented and widely separated, and the fibrils were randomly oriented in the perivascular space of capillaries in ALS patients, which were not observed in any areas of control groups or in posterior funiculus of ALS patients; and (3) the collagen contents in ALS were significantly lower (P<0.001 and P<0.001, respectively) than those in control groups A and B. Fragmented and widely separated collagen bundles in the interstitial tissue surrounding capillaries and markedly decreased amount of collagen in posterior half of lateral funiculus and in anterior horn of ALS could be related to the degeneration of the upper and lower motor neurons in the spinal cord in ALS, that is, selective neuronal vulnerability in ALS.     

Flail arm syndrome with cytoplasmic vacuoles in remaining anterior horn motor neurons: A peculiar variant of amyotrophic lateral sclerosis

Flail arm (FA) syndrome, a minor subtype of amyotrophic lateral sclerosis (ALS), is characterized by progressive weakness and upper girdle wasting, but the associated pathological changes remain unclear. A 59‐year‐old man was admitted to our hospital with a 3‐year history of upper girdle weakness. Bulbar symptom and gait disturbance gradually developed, and he was clinically diagnosed with FA syndrome. After a 10‐year disease course, he died of pulmonary adenocarcinoma. Neuropathological examination revealed severe motor neuronal loss in the brain stem and anterior horn of the cervical spinal cord with bilateral pyramidal tract degeneration. The histological findings were consistent with typical ALS, including Bunina bodies and Lewy body‐like and skein‐like inclusions. Cytoplasmic vacuoles were found in the remaining anterior horn motor neurons of the lumbar spinal cord. This is a unique autopsy case with a long‐standing clinical course that suggests that FA syndrome is an atypical form of ALS.     

肌萎缩侧索硬化症临床诊断进展

肌萎缩侧索硬化症为致命性神经系统变性疾病,主要累及锥体束、脑干和脊髓前角细胞,临床表现呈进行性加重的肌肉萎缩、无力及痉挛,以及认知损害等,与额颞叶痴呆的临床表现存在部分重叠。约有5%的患者为家族遗传性,临床表现与散发型相似。诊断主要基于患者临床表现、世界神经病学联盟公布的共识,同时排除临床表现相似的疾病。基因检测为加速诊断进程、早期干预提供了新的途径,部分基因突变与特异性表型相关,可据此进行预后评价和遗传学咨询。     

Autopsy report of HTLV-I-associated myelopathy presenting with ALS-like manifestations.

We report an autopsy case of HTLV-I-associated myelopathy (HAM) showing clinical features indistinguishable from amyotrophic lateral sclerosis (ALS). A Japanese man developed bulbar palsy and generalized neurogenic muscular atrophy with symmetrical hyperreflexia at the age of 57 and died 4.5 years after the onset. He had an increased titer of anti-HTLV-I antibodies in serum and CSF. At autopsy, the leptomeninges were thickened and infiltrated with inflammatory cells. The brain and spinal cord were atrophic. The pyramidal tracts and anterior horn cells of spinal cord were severely degenerated but degenerative changes were also found in the basal ganglia, thalamus, brainstem tegmentum, and the dorsal columns of spinal cord. In all degenerative areas, prominent infiltrations of inflammatory cells were found. The present case indicates that HAM may produce clinical features indistinguishable from ALS.