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。     

连枷臂综合征临床特点分析

连枷臂综合征是肌萎缩侧索硬化的一种良性的临床变异型,一般男性多见,起病缓慢,生存期较长,主要临床特征为对称性双上肢近端显著的肌无力、肌萎缩,而双下肢、球部功能受累较轻。神经电生理检查表现为3个以上脊髓节段的广泛神经源性损害。目前缺乏针对连枷臂综合征的药物研究,利鲁唑是唯一批准用于肌萎缩侧索硬化的药物。     

连枷臂综合征:表现为上肢无力和萎缩的良性运动神经元病

目的回顾总结3例连枷臂综合征患者的临床、电生理和骨骼肌病理改变的特点,并分析此类患者的护理策略。方法与结果3例患者均为男性,发病年龄分别为54岁、71岁和64岁,病程2～4年。主要表现为缓慢、进行性发展的双上肢肌无力和肌肉萎缩,例1和例3均于病程发展后期出现双下肢轻度无力;例2以认知功能障碍发病;例3于疾病后期出现认知功能障碍。3例神经系统检查均呈现双上肢明显肌无力,近端和远端广泛分布的肌肉萎缩,伴随肌张力下降和腱反射减退。例2和例3还同时合并下肢上运动神经元损害及认知功能障碍。对3例患者进行电生理学及病理检查显示:(1)肌电图呈静息状态下的肌纤维颤动和肌束颤动电位,胸锁乳突肌、上肢和下肢肌肉轻收缩时运动单位电位时限增宽、波幅增高或为宽大运动单位电位,重收缩时呈单纯相或混合相。例1双侧尺神经运动神经传导未发现传导阻滞现象。3例感觉和运动神经传导速度于正常值范围,诱发电位波幅有不同程度下降。(2)骨骼肌病理检查可见小角状萎缩肌纤维呈簇分布并累及Ⅰ型和Ⅱ型,伴随明显的肌纤维肥大;有肌纤维核内移现象,还原型辅酶Ⅰ四氮唑还原酶染色偶见靶样纤维,非特异性酯酶染色显示部分萎缩的肌纤维深染。结论3例患者的临床症状、体征及病变分布均符合连枷臂综合征的诊断,以双上肢的局限性损害为突出表现,同时可合并下肢的轻微损害或亚临床改变,与其他运动神经元病一样可合并认知功能障碍。由于上肢严重病残,应当注意采取相应的保护措施,避免发生意外伤害。     

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。     

肌萎缩侧索硬化叠加帕金森综合征临床分析

本文报道了广东省人民医院2例肌萎缩侧索硬化叠加帕金森综合征(ALS-PS)患者的诊断过程,通过文献复习分析了肌萎缩侧索硬化叠加综合征(ALS-Plus)的临床特征、发病率、预后以及可能的发病机制。例1患者表现出运动迟缓和铅管样肌强直的帕金森综合征,左旋多巴冲击试验阴性,无嗅觉减退和痴呆,我们诊断为未分化的ALS-PS。例2患者不仅表现出运动迟缓和铅管样肌强直,同时还有小脑、自主神经功能受累的表现,可以归结到MSA的诊断,故诊断为ALS-MSA。ALS-Plus约占所有ALS患者的13. 6%,并且较单纯ALS患者有更短的生存时间。尽管相关研究尝试为ALSPlus提供合理的解释,但目前具体发病机制仍不完全清楚,有待进一步的研究。ALS-Plus在ALS中并不罕见,但在临床上容易被忽略,一方面因为ALS-Plus对其他系统特别是锥体外系的损伤常常被严重的肌萎缩、肌无力症状所掩盖;另一方面在于神经科医生仍对其缺乏充分的认识。因此,我们认为神经科医生应该加强对ALS-Plus的认识,详细的病史和体格检查有助于避免误诊及漏诊。     

连枷臂(腿)综合征的临床、电生理和病理特点

目的探讨连枷臂综合征(flailarm syndrome,FA)和连枷腿综合征(flailleg syndrome,FL)患者的临床、电生理和骨骼肌病理改变特点。方法收集2007-01-2011-10期间就诊于海军总医院神经内科的FA和FL患者。所有患者均进行了详细的病史询问、体格检查以及电生理检查。2例患者行肌肉病理检查。结果 5例患者中FA 4例、FL 1例,男4例、女1例,发病年龄为18～65岁,平均35岁,病程分别为2年、2.5年、3年、14年和31年。FA表现为双上肢近端无力伴萎缩;FL表现为下肢远端无力伴跟腱反射消失。疾病后期FA向肢体远端发展,FL向肢体近端发展,其他节段轻微受累。肌电图显示部分受累肌肉出现失神经支配,运动和感觉神经传导速度正常。肌肉病理呈典型神经源性骨骼肌损害的病理特点。结论 FA和FL是肌萎缩侧索硬化(ALS)的一种变异型,病情进展呈良性过程。电生理和病理均符合失神经支配骨骼肌损害的特点。     

肌萎缩侧索硬化叠加帕金森综合征临床分析

本文报道了广东省人民医院2例肌萎缩侧索硬化叠加帕金森综合征（ALS-PS）患者的诊断过程，通过文献复习分析了肌萎缩侧索硬化叠加综合征（ALS-Plus）的临床特征、发病率、预后以及可能的发病机制。例1患者表现出运动迟缓和铅管样肌强直的帕金森综合征，左旋多巴冲击试验阴性，无嗅觉减退和痴呆，我们诊断为未分化的ALS-PS。例2患者不仅表现出运动迟缓和铅管样肌强直，同时还有小脑、自主神经功能受累的表现，可以归结到MSA的诊断，故诊断为ALS-MSA。ALS-Plus约占所有ALS患者的13.6%，并且较单纯ALS患者有更短的生存时间。尽管相关研究尝试为ALS-Plus提供合理的解释，但目前具体发病机制仍不完全清楚，有待进一步的研究。ALS-Plus在ALS中并不罕见，但在临床上容易被忽略，一方面因为ALS-Plus对其他系统特别是锥体外系的损伤常常被严重的肌萎缩、肌无力症状所掩盖；另一方面在于神经科医生仍对其缺乏充分的认识。因此，我们认为神经科医生应该加强对ALS-Plus的认识，详细的病史和体格检查有助于避免误诊及漏诊。     

肌萎缩侧索硬化研究进展

<正>肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)是一种主要累及大脑皮质、脑干和脊髓运动神经元的慢性致死性神经系统变性疾病,临床表现为骨骼肌无力和萎缩,进行性加重。其病因、发病机制均不明确,迄今为止还未发现特效治疗方法,患者平均生存期仅3～5 y。其中5%～10%为家族性ALS(fA LS),90%～95%为散发性ALS(sA LS)。本文综述ALS在临床表现及相关生物标记物等方面的发展历程,重点介绍ALS神经电生理及神经影像等技术的应用,利于临床     

Flail arm syndrome: a clinical variant of amyotrophic lateral sclerosis

We describe a case of a 65-year old patient diagnosed with amyotrophic lateral sclerosis. The clinical findings, with symmetric, predominantly proximal wasting and weakness of both arms (especially of the infra-, supraspinatus and deltoideus) leading to severe functional disability and contrasting with preserved independent ambulation and sparing of bulbar muscles, were consistent with the proposed criteria of the so-called flail arm syndrome. Based on our case we characterize the clinical features of flail arm syndrome and review the literature.     

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.     

Intravenous immunoglobulin therapy in amyotrophic lateral sclerosis

Seven consecutive patients with amyotrophic lateral sclerosis (ALS) were treated with intravenous immunoglobulins (IVIg; 0.4 g/kg per day for 5 consecutive days followed by monthly 2-day infusions at the same daily dosage) continued with oral cyclophosphamide (1–2 mg/kg per day), for 4–13 months (mean 8.1). Response to treatment was assessed by means of the Medical Research Council (MRC) rating scale for muscle strength on 40 muscles (10 per limb), a clinical scale for bulbar function and a modified Rankin disability scale. All patients continued to deteriorate during treatment on as regards both their MRC score and either their bulbar or Rankin score or both. The progression of the disease during treatment, expressed as the monthly variation in MRC score (mean=−2.71; SD=1.36), was no slower than that estimated before therapy (mean=−1.81; SD=0.93). Even if the results of this small, uncontrolled study do not permit the exclusion of an effect of IVIg on the progression of ALS, they also do not provide any evidence that this expensive form of therapy consistently slows the course of the disease.     

Denervation findings on EMG in amyotrophic lateral sclerosis and correlation with prognostic milestones: Data from a retrospective study

ObjectiveTo verify whether the finding of denervation activity on EMG at the time of diagnosis has a prognostic value in amyotrophic lateral sclerosis (ALS).MethodsWe retrospectively studied all the patients discharged with a diagnosis of ALS between January 2009 and January 2017. 92 patients met the inclusion criteria. We mainly verified three prognostic targets:

• (1)Time to non-invasive ventilation (NIV) or tracheostomy.
• (2)Time to percutaneous endoscopic gastrostomy or parental nutrition.
• (3)Survival.

All EMG examinations were reviewed and a denervation score (DS) was calculated.The association of DS with clinical milestones was analysed, adjusting for disease duration, age , sex, and clinical phenotype.ResultsWe found a significant association between bulbar DS and time to NIV/tracheostomy (HR: 3.34, 95% CI: 1.49 to 7.48, p = 0.002) and with survival (HR 3.633, 95% CI 1.681–7.848, p = 0.001), regardless of the clinical phenotype. Furthermore, we found a significant influence of a general DS on survival (HR: 2.62, 95% CI 1.335–5.160, p = 0.005).ConclusionEMG assessment could be of value not just for ALS diagnosis but also for its intrinsic prognostic value.SignificanceEMG could provide additional information about the rate of progression of ALS as early as the diagnosis is made.     

Patients with amyotrophic lateral sclerosis and cancer do not differ clinically from patients with sporadic amyotrophic lateral sclerosis

We examined whether patients with both amyotrophic lateral sclerosis (ALS) and cancer differ from classical ALS patients, and whether motor neuron disease responds to oncological therapy. We analyzed clinical and immunological features of 14 patients (9 men, 5 women; mean age 65.3 years) with pure/definite ALS and cancer. Patients with solid tumor cancer and definite ALS were selected according to the El Escorial criteria; cases with ALS plus were excluded. Four patients had breast cancer, three lung adenocarcinoma, and three bowel tumor; hepatocarcinoma, kidney cancer, and mesothelioma were observed in one case each, and in one patient the primary tumor was unidentified. Patients' sera were examined for antinervous system antibodies by means of immunohistochemistry and western blot analysis. Of five patients who underwent surgical therapy, two worsened during the procedure, while the other three had no benefit. The remaining two patients did not improve after chemotherapy and radiotherapy. In none of our cases did the oncological disease progress. Death was a consequence of ALS in all eight patients who died. Median survival was 18 months and did not differ from that of 28 ALS patients matched for age, sex, and onset features (bulbar or spinal). Anti-nervous system antibodies were never detected. We conclude that our group of pure ALS patients with cancer do not significantly differ from patients with classical ALS. They usually die as a consequence of the motor neuron syndrome in the absence of cancer progression. To date we have not observed any response of ALS to antitumor therapy. Received: 19 November 1999 / Received in revised form: 25 February 2000 / Accepted: 17 May 2000     

肌萎缩侧索硬化症存活20年1例报道并文献复习

目的 总结长期存活的肌萎缩侧索硬化症（ALS）的治疗经验。方法 回顾性分析2001年10月收治1例ALS的临床资料,从发病至今已近20年,结合相关文献,总结治疗经验。结果 病人已存活20年,期间发生肺炎4次、泌尿系统感染5次均治愈,未发生深静脉血栓形成与压疮。目前病人呈醒状昏迷,营养状况良好,全身瘫痪,依赖呼吸机维持呼吸,无呼吸道和泌尿系统感染。结论 ALS发病机制复杂,早期症状不典型,易误诊,目前尚无特异性治疗措施,实施个体化对症支持治疗,提前做好防治影响病人生命主要并发症的医疗护理措施是延长病人生命的关键。做好营养支持、预防深静脉血栓形成及压疮、预防呼吸道和泌尿系统感染等对减少病人各种并发症、延长生命具有重要意义。     

Aluminum, calcium, and iron in the spinal cord of patients with sporadic amyotrophic lateral sclerosis using laser microprobe mass spectroscopy: a preliminary study

We measured aluminum (Al), calcium (Ca), and iron (Fe) levels in neuronal cytoplasm and nucleus, capillaries, and neuropil in samples of ventral cervical spinal cord from 5 patients with sporadic amyotrophic lateral sclerosis (ALS) and 5 age-matched controls using laser microprobe mass spectrometry (LMMS). The concentration of Al was not altered in any area in the ALS samples. In contrast, Fe and Ca were increased 1.5-2-fold in the nucleus and cytoplasm of ALS neurons but not in capillaries and neuropil. These findings do not support the hypothesis that Al is enriched in spinal cord of sporadic ALS as has been reported for Guamanian ALS/Parkinson's dementia. The elevations of Fe in spinal neurons are consistent with reports of increased Fe in bulk samples of ALS spinal cord. The presence of increased Fe within spinal neurons may be significant in the pathogenesis of motor neuron degeneration by catalyzing the generation of reactive oxygen species within specific cells.     

Ifenprodil对肌萎缩侧索硬化离体模型中运动神经元的保护作用

目的 探讨Ifenprodil对苏-羟天冬氨酸(THA)诱导的肌萎缩侧索硬化(ALS)离体模型中运动神经元的保护作用.方法 在离体培养的脑组织片中加入THA造成慢性谷氨酸损伤,模拟肌萎缩侧索硬化的特征性病理改变.将脑片分为6组:(1)对照组,不添加THA; (2)THA损伤组,细胞换液时加入100 μmol/L THA,持续1周;(3)不同剂量Ifenprodil组(分别在THA损伤基础上添加0.1、1、10、100 μmol/L Ifenprodil);每组6个培养皿.Ifenprodil 于THA损伤前2h加入到各组脑片中.根据PI染色的荧光亮度测定Ifenprodil保护作用的最佳浓度.在损伤的不同时间点用丙二醛(MDA)试剂盒测定培养体系中MDA的含量,Western blotting测定运动皮层中半胱氨酸天冬氨酸酶-3(caspase-3)蛋白表达量.结果 PI染色显示10 μmol/L Ifenprodil对运动神经元有明显保护作用.THA损伤后,培养体系中MDA含量明显增加,运动皮层中caspase-3活化亚基(相对分子量为17 000)表达量增高,与其他组别比较差异有统计学意义(P＜0.05).10μmol/L Ifenprodil能有效阻止MDA和活化caspase-3的增加.结论 Ifenprodil能够通过减轻运动神经元的氧化应激反应,抑制caspase-3活化,进而有效保护ALS离体模型中运动神经元的损伤.