原发性侧索硬化2例报道及相关文献复习

目的 探讨原发性侧索硬化(PLS)的临床诊断、与经典的肌萎缩侧索硬化的关系、神经电生理特点、影像学特点及鉴别诊断.方法 分析我科收治的2例PLS患者的临床资料,并复习相关文献.结果 PLS是隐匿起病,进展缓慢的仅累及上运动神经元的神经退行性疾病,很多初诊为PLS的患者经过长期随访最后发展为肌萎缩侧索硬化,PLS的影像学表现多样,神经电生理检查容易早期发现下运动神经元损伤.结论 对于疑诊PLS的患者,明确是否具有局限性下运动神经元损伤症状十分重要,对患者进行时间的纵断随访对疾病最后的诊断和预后评估意义重大.     

原发性侧索硬化的影像学特征1例报告

原发性侧索硬化(primary lateral sclerosis,PLS)是一种临床上较为罕见的运动神经元病(motor neuron disease,MND)[1],选择性损害椎体束,导致肢体上运动神经元功能缺损,现将本院收治的1例具有典型影像学特征的病例报道如下。     

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。     

连枷臂综合征:肌萎缩侧索硬化的临床变异型

目的 探讨连枷臂综合征的临床特点和诊断标准.方法 回顾分析172例的肌萎缩侧索硬化患者,其中14例临床特征为对称性双上肢近端显著萎缩和无力,而双下肢、球部功能保持相对完好.符合连枷臂综合征的诊断标准.对其临床特点进行统计分析.结果 依据Escorial诊断标准,14例连枷臂综合征患者均符合确诊或拟诊的肌萎缩侧索硬化.男女比例为6：1,显著高于经典肌萎缩侧索硬化组.结论 连枷臂综合征可能为肌萎缩侧索硬化的临床变异型,男性患者的显著高发提示其发病可能与男性基因异常相关.     

肌萎缩侧索硬化26例临床分析

<正>肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)是成年运动神经元病中最常见的形式,其发病机制不清楚,诊断仍处于临床水平,无特效治疗,存活期为3~5年,预后不良。本文对我科近几年收治的肌萎缩侧索硬化病例的临床特征进行分析如下:     

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.     

关注肌萎缩侧索硬化患者的临床诊治

肌萎缩侧索硬化（ALS）是一种累及患上、下运动神经元的致命性神经系统变性疾病.在不同国家,肌萎缩侧索硬化有不同的名称：法国称其为Charcot病,源于1869年首次描述这一疾病的名神经病学家Charcot医生;美国称其为Lou Gehrig病,是以纪念罹患此病并使该病引起公众广泛关注的美国名棒球运动员;而在英国,它又被称为运动神经元病,强调了该病的归属类别.     

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     

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。     

Disease spread through contiguity and axonal tracts in primary lateral sclerosis

Our goal in this report was to determine whether symptom progression in primary lateral sclerosis (PLS) was consistent with disease spread through axonal pathways or contiguous cortical regions. The date of symptom onset in each limb and cranial region was obtained from 45 PLS patient charts. Each appearance of symptoms in a new body region was classified as axonal, contiguous, possibly contiguous, or unrelated, according to whether the somatotopic representations were adjacent in the cortex. Of 152 spread events, the first spread event was equally divided between axonal (22) and contiguous (23), but the majority of subsequent spread events were classified as contiguous. Symptom progression in PLS patients is consistent with disease spread along axonal tracts and by local cortical spread. Both were equally likely for the first spread event, but local cortical spread was predominant thereafter, suggesting that late degeneration does not advance through long axonal tracts. Muscle Nerve 49 :439–441, 2014     

Not a benign motor neuron disease: longitudinal imaging captures relentless motor connectome disintegration in primary lateral sclerosis

Background and purpose

Primary lateral sclerosis (PLS) is a progressive upper motor neuron disorder associated with considerable clinical disability. Symptoms are typically exclusively linked to primary motor cortex degeneration and the contribution of pre-motor, supplementary motor, cortico-medullary and inter-hemispheric connectivity alterations are less well characterized.

Methods

In a single-centre, prospective, longitudinal neuroimaging study 41 patients with PLS were investigated. Patients underwent standardized neuroimaging, genetic profiling with whole exome sequencing, and comprehensive clinical assessments including upper motor neuron scores, tapping rates, mirror movements, spasticity assessment, cognitive screening and evaluation for pseudobulbar affect. Longitudinal neuroimaging data from 108 healthy controls were used for image interpretation. A standardized imaging protocol was implemented including 3D T1-weighted structural, diffusion tensor imaging and resting-state functional magnetic resonance imaging. Following somatotopic segmentation, cortical thickness analyses, probabilistic tractography, blood oxygenation level dependent signal analyses and brainstem volumetry were conducted to evaluate cortical, brainstem, cortico-medullary and inter-hemispheric connectivity alterations both cross-sectionally and longitudinally.

Results

Our data confirm progressive primary motor cortex degeneration, considerable supplementary motor and pre-motor area involvement, progressive brainstem atrophy, cortico-medullary and inter-hemispheric disconnection, and close associations between clinical upper motor neuron scores and somatotopic connectivity indices in PLS.

Discussion

Primary lateral sclerosis is associated with relentlessly progressive motor connectome degeneration. Clinical disability in PLS is likely to stem from a combination of intra- and inter-hemispheric connectivity decline and primary, pre- and supplementary motor cortex degeneration. Simple ‘bedside’ clinical tools, such as tapping rates, are excellent proxies of the integrity of the relevant fibres of the contralateral corticospinal tract.     

Macroglossia in primary lateral sclerosis: a case report

Abstract

Purpose/Aim: Macroglossia is a rare condition, especially in patients with motor neuron disease. In this case report, we describe a patient with macroglossia in the early stages of motor neuron disease.

Case report: A 62-year-old woman presented with macroglossia in the early stages of motor neuron disease. She was referred to the department of physical medicine and rehabilitation of a university hospital for rehabilitation with the diagnosis of motor neuron disease, most likely primary lateral sclerosis. Her speech was incomprehensible, and she also showed significant sialorrhea and had difficulty in chewing large solid food. Her tongue was enlarged on examination, and she could not close her mouth fully. No other possible causes of macroglossia were found. She showed nocturnal hypercapnia on overnight capnography examination coupled with desaturation, which was believed to result from the macroglossia. After commencing non-invasive ventilation with pressure control mode, follow-up overnight capnography revealed EtCO₂ values within the normal range.

Conclusions: To the best of our knowledge, this is the first report of macroglossia in PLS. Further study would be needed to ascertain the pathogenesis of this phenomenon.     

Epidemiology of amyotrophic lateral sclerosis in Hordaland county, western Norway

The incidence, prevalence and prognosis of amyotrophic lateral sclerosis (ALS) in the county of Hordaland, western Norway were determined for the years 1978 through 1988. The average annual incidence rate was 1.60 per 100,000 population with a male to female ratio of 1.26 (95% confidence interval: 0.76-2.09). The maximal age-specific annual incidence was 8.12 per 100,000 and occurred in the age-group between 61 and 65 years. The prevalence of ALS was 3.67 per 100,000 on December 31, 1988. The average age at the onset of the disease was 60.9 years ranging from 34 to 82 years of age. Survival was studied with life table techniques. Median survival from the onset of symptoms was 28.0 months overall. In patients with bulbar onset the median survival was 24.0 months whereas it was 40 months in patients with spinal onset of disease (log rank test, P = 0.0004). The difference in survival between ALS with bulbar or spinal onset was not explained by age or sex differences in the two groups.     

Primary lateral sclerosis

An autopsy case of motor neuron disease in which only the upper motor neurons were involved is reported. A 64-year-old man presented with progressive dysarthria, dysphagia and spastic quadriparesis with no muscle atrophy or fasciculation. He became bedridden 1.5 years later and died of pneumonia 3 years and 3 months after onset. Neuropathological findings consisted of a decreased number of Betz cells in the motor cortex and degeneration of the pyramidal tracts in the brainstem and spinal cord. The motor nuclei of the brainstem and anterior horn cells in the spinal cord were preserved. Some anterior horn cells contained ubiquitin-positive dense bodies. Many axonal spheroids were found in the pyramidal tract in the brainstem, most frequently in the cerebral peduncles of the midbrain. These clinicopathological features are in keeping with primary lateral sclerosis as previously reported, however, the presence of ubiquitin-positive material in some anterior horn cells suggests there may be some motor nerve cell degeneration occurring simultaneously.     

The onset of amyotrophic lateral sclerosis

Two patients in whom both the neurological examination and electromyography (EMG) were normal prior to the onset of amyotrophic lateral sclerosis (ALS) are reported. In each patient, the onset of ALS some 18 months later was clearly defined clinically and confirmed by subsequent EMG studies. These unique observations show that ALS commences at a defined time, and that there is early generalisation with an initial phase of rapid progression.