少年型肌萎缩侧索硬化1例报告

少年型肌萎缩侧索硬化１例报告冯兰芳肌萎缩侧索硬化（Ａｍｙｏｔｒｏｐｈｉｃｌａｔｅｒａｌｓｃｌｅｒｏｓｉｓ－ＡＬＳ），首先由Ｃｈａｒｃｏｔ１８６９年报道，其特征表现为脊髓前角细胞、侧索及延髓运动神经核受损［１，２］。各年龄组均有发病，绝大部分起病于中年...     

sIL—2R,mIL—2R及TNF—α在多发性硬化症免疫学发？…

目的 探讨可溶性白细胞介素－２受体（ｓＩＬ－２Ｒ）膜白细胞介素－２受体（ｍＩＬ－２Ｒ）和肿瘤坏死因子－α（ＴＮＦ－α）与多发性硬化（ＭＳ）免疫学发病机制，病程及病情的关系。方法 采用ＥＬＩＳＡ法检测了临床确衣的４８例ＭＳ患者血清，２８例ＣＳＦ中ｓＩＬ－２Ｒ水平，用免疫荧光法检测２８例ＭＳ患者血中ｍＩＬ－２Ｒ的表达，用生物活性测定法检测２８例ＭＳ患者ＰＢＭＣｓ体外诱生ＴＮＦ－α水平。结果 ＭＳ患者组     

MRI貌似脊髓空洞症的多发性硬化2例

ＭＲＩ貌似脊髓空洞症的多发性硬化２例陈晓希，桂德超，王国相多发性硬化（Ｍｕｌｔｉｐｌｅｓｃｌｅｒｏｓｉｓ，ＭＳ）是一种青壮年时期的中枢神经系统脱髓鞘疾病。磁共振成像（ＭＲＩ）常表现为脑和脊髓白质内脱髓鞘病灶。我们观察到２例ＭＲＩ表现为沿脊髓中央管周围...     

多发性硬化患者脑脊液sIL-2R水平变化的研究

目的：探讨可溶性白细胞介素２受体（ｓＩＬ－２Ｒ）在多发性硬化（ＭＳ）发病机理中的作用及其临床意义。方法：采用双抗体夹心ＥＬＩＳＡ法对４４例ＭＳ患者脑脊液ｓＩＬ－２Ｒ水平进行了检测。结果：ＭＳ组脑脊液ｓＩＬ－２Ｒ水平显著高于正常对照组,脑脊液ｓＩＬ－２Ｒ水平变化与ＭＳ患者疾病活动状态及病残程度密切相关。结论：ＭＳ患者体内Ｔ淋巴细胞处于活化状态,ｓＩＬ－２Ｒ在ＭＳ发病机理中发挥着重要作用,检测脑脊液ｓ     

POEMS综合征两例报告

ＰＯＥＭＳ综合征两例报告王显锏，戚晓昆（海军总医院神经内科，北京１０００３７）ＰＯＥＭＳ综合征亦称Ｃｒｏｗ－Ｆｕｋａｓｅ综合征，是以多发性周围神经病为主，伴多系统受累性疾病。本文２例伴心肌梗塞或伴胸膜及心包膜粘连的ＰＯＥＭＳ综合征较为少见，现报告如下...     

多发性硬化患者血清中可溶性白细胞介素-2受体的研究

目的：探讨多发性硬化（ＭＳ）患者血清中可溶性白细胞介素２受体水平的变化及临床意义。方法;采用双抗体夹心ＥＬＩＳＡ法检测了２８例ＭＳ患者和３５例正常对照组血清ｓＩＬ－２Ｒ水平。结果：ＭＳ患者中,急性复发组和缓解组血清中ｓＩＬ－２Ｒ水平均显著高于正常对照组（Ｐ〈０．０１）,而急性复发组患者ｓＩＬ－２Ｒ水平又较缓解组增高（Ｐ〈０．０５）,且与病情严重程度有关。结论：ＭＳ患者血清ｓＩＬ－２Ｒ水平异常增高,     

多发性硬化治疗的现状与前景

多发性硬化治疗的现状与前景周红雨，董为伟多发性硬化（ＭｕｌｔｉｐｌｅＳｃｌｅｒｏｓｉｓ，Ｍｓ）是一种中枢神经系统（ＣＮＳ）的炎症性脱髓鞘疾病，自身免疫异常在其发病机制中起重要作用，遗传及环境等因素可能影响其发展及后继病程。ＭＳ的临床病程多种多样，其临...     

多发性硬化患者血清中白细胞介素－2受体的动态观察

多发性硬化患者血清中白细胞介素－２受体的动态观察张晨，丛志强采用ＥＬＩＳＡ双抗体夹心法对２３例多发性硬化（ＭＳ）患者在急性复发期和缓解期血清中的白细胞介素｛受体（ｓＩＬ－２Ｒ）水平进行了动态检测。结果显示急性复发期患者的ｓＩＬ－２Ｒ水平（６９１．８±...     

多发性硬化患者血清中白细胞介素-2受体的动态观察

多发性硬化患者血清中白细胞介素－２受体的动态观察张晨，丛志强采用ＥＬＩＳＡ双抗体夹心法对２３例多发性硬化（ＭＳ）患者在急性复发期和缓解期血清中的白细胞介素｛受体（ｓＩＬ－２Ｒ）水平进行了动态检测。结果显示急性复发期患者的ｓＩＬ－２Ｒ水平（６９１．８±...     

多发性硬化三例标本MRI长T2信号与病理对照研究

采用磁共振成像（ＭＲＩ）与病理对照方法探讨多发性硬化（ＭＳ）ＭＲＩ异常长Ｔ２信号与病理改变的关系。对３例经１０％福尔马林固定的全脑标本（其中１例含脊髓）行自旋回波（ＳＥ）序列扫描，对照ＭＲＩ图像所示的长Ｔ２信号行标本大体及镜下观察。３例ＭＳ均显示有长Ｔ２信号，其病理基础除ＭＳ斑块外还可见坏死软化灶及空洞形成。斑块状长Ｔ２信号具有特征性的ＭＲＩ表现：直角脱髓鞘征，见于病程长者（例１）。坏死软化灶及空洞形成引起的非斑块状长Ｔ２信号形态分布不一，以病程短、起病急者为著（例２、３），后者脊髓受累程度亦严重。ＭＲＩ是诊断ＭＳ最有价值的影像学检查方法。ＭＳ长Ｔ２信号的病理基础除典型硬化斑外还有坏死软化灶及空洞形成。当临床拟诊为ＭＳ，而ＭＲＩ仅显示非斑块状长Ｔ２信号时，应警惕为急性发病的ＭＳ。     

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。     

An autopsy case of amyotrophic lateral sclerosis associated with cervical syringomyelia

An autopsied case of amyotrophic lateral sclerosis complicated by cervical syringomyelia was reported. The case was a 59-year-old man, who first noticed weakness of both lower extremities at 54-year-old. The weakness spread to both upper extremities within 2 years. Cervical myelography revealed multi-level cervical spondylosis and anterior fusion of C5-C7 was done. But the weakness and atrophy of proximal muscle, diminished deep tendon reflex on upper extremities, hyperreflexia and pathological reflexes on both legs, tongue fasciculation and respiratory muscle weakness developed successively, and the patient died of respiratory distress at 59-year-old. Autopsy revealed multiple independent four syrinxes located at the level between C2-C7. One of these syrinxes had ependymal cell lining and thought to be idiopathic syringomyelia. The other three syrinxes were considered to be the cavitation in association with cervical spondylotic myelopathy. Degeneration and decreasing of spinal anterior horn cells, atrophy of medullary pyramis and Bunina bodies were observed as features of typical amyotrophic lateral sclerosis. Cervical spondylosis as causative lesion of multiple syrinxes was discussed, and relationship between ALS and the syrinxes was not indicated clearly.     

Dissociated small hand muscle atrophy in amyotrophic lateral sclerosis: frequency, extent, and specificity

Previous studies suggest that in amyotrophic lateral sclerosis (ALS) the abductor pollicis brevis (APB) and first dorsal interosseous (FDI) are more severely involved than abductor digiti minimi (ADM). To elucidate the pattern, frequency, extent, and specificity of such dissociated muscle atrophy in ALS, compound muscle action potentials recorded from APB, FDI, and ADM were analyzed in 77 ALS patients, 171 normal controls, and 196 disease controls. Compared with normal controls, ALS patients had a reduced APB/ADM amplitude ratio (P < 0.001) and FDI/ADM ratio (P < 0.001), whereas patients with other anterior horn diseases showed similar APB/ADM and FDI/ADM ratios to normal values. Decreased APB/ADM ratio was found in 41% of ALS patients, 5% of normal controls, and 4% of disease controls. Prominent muscle atrophy in APB and FDI, with relatively preserved ADM, appears to be specific to ALS. Dissociated hand muscle atrophy presumably reflects part of the pathophysiology and supports the diagnosis of ALS.     

Ultrastructural and histochemical features of skeletal muscle in the Wohlfart-Kugelberg-Welander syndrome

Correlated electron-microscopic and histochemical studies of skeletal muscle biopsies from 2 patients with the Wohlfart-Kugelberg-Welander syndrome revealed the following morphological changes during the course of atrophy: (1) focal degeneration of I bands; (2) dissolution of Z lines, accompanied by an increase in number and size of mitochondria; (3) loss of entire sarcomeres, and narrowing of myofibrils. These observations have been compared with previous reports of the fine structure of skeletal muscle in amyotrophic lateral sclerosis and progressive spinal muscular atrophy, as well as in experimental denervation atrophy in various species.     

Superiority of sonographic evaluation of contracted versus relaxed muscle thickness in motor neuron diseases

ObjectiveTo compare the correlations of relaxed and contracted limb muscle thickness with clinical scales in patients with amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).MethodsPatients with ALS and SMA were prospectively recruited from December 2018 to November 2019. All patients underwent clinical assessment and sonographic muscle thickness measurement of eight relaxed muscles (biceps brachii, abductor pollicis brevis (APB), first dorsal interosseous, abductor digiti minimi, quadriceps, tibialis anterior, extensor digitorum brevis, and abductor hallucis brevis), and four contracted muscles (biceps brachii, APB, quadriceps, and tibialis anterior).Results91 patients with ALS and 31 patients with SMA were recruited. Contracted muscle thickness compared to relaxed muscle showed higher reliability and similar or better correlations with muscle strength and clinical scales, especially in ALS patients with hyperreflexia. Strong to very strong correlations with clinical scales were observed with multivariate analysis of relaxed and contracted muscle thickness (0.64–0.87).ConclusionsSonographic evaluation of contracted muscle thickness is an objective measure that correlates with disease burden. It is feasible, quick, valid and reliable, and may be superior to evaluation of relaxed muscles.SignificanceSonographic evaluation of contracted muscle thickness is superior to evaluation of relaxed muscles.     

Muscle wasting in chronic alcoholics: comparative histochemical and biochemical studies.

The comparative electrophysiologic, histochemical, and biochemical investigation of the anterior tibial muscle of 13 alcoholics indicates that neuropathy could be the cause of the chronic muscle weakness and wasting. Myopathic alterations did not predominate in the findings. It was concluded that the proximal muscle atrophy could also be attributed to neurogenic damage. Histochemical reactions in muscle specimens showed a selective type 2 atrophy and a slight increase of the mean diameter of type 1 fibres. Biochemical investigations revealed that the activities of a number of enzymes representative of energy supplying pathways--the glycogenolysis and glycolysis--as well as acid phosphatase activity in the muscle were lowered. A relationship could be assumed between the lowered glycolytic activity and the decline of the mean diameter of type 2 fibres. Oxidative enzymes were of similar activity in the alcoholics and the control group. The glycolytic enzyme activities were particularly important, being the most sensitive indicators of the onset, intensity, and course of neurogenic damage. These activities probably normalise during reinnervation of a muscle earlier than do the morphologic alterations; however, they were markedly lower in alcoholics with impaired liver function and cachexia, probably because of the catabolic metabolic conditions present in these cases.     

Estimation of the number of motor units based on macro-EMG.

The technique of the macro-EMG was used to estimate the number of motor units in the tibialis anterior muscles of healthy subjects in a wide range of ages, and of patients with myasthenia gravis and patients with amyotrophic lateral sclerosis or spinal muscular atrophy. The results obtained suggest a decrease in the number of motor units in the tibialis anterior muscle with increasing age in normal subjects. In myasthenic patients the motor unit count was within the normal range for their age group. Patients with motor neuron disorders on the average had a very low number of motor units.     

Clinical progression in Charcot–Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family

Long-term follow-up studies in Charcot–Marie-Tooth disease type 1 duplication (CMT1A) are scanty. Here we describe a longitudinal study in a CMT1A pedigree. Our CMT1A pedigree comprised 11 examined patients, ages between 13 and 83 (median, 36) years, serially evaluated for up to 26 years. In all 11 patients we carried out electrophysiological evaluation, and in three of them magnetic resonance imaging (MRI) of lower-limb musculature. The 54-year-old proband patient, yearly examined as of age 28, developed at age 48 gradual and progressive distal lower-leg weakness ascending to thigh musculature. His serial electrophysiological studies showed diffuse slowing of motor conduction velocity, absence or severe attenuation of distal compound muscle action potentials, and spontaneous muscle activity in the tibialis anterior and rectus femoris. Two MRI studies of lower limbs, at ages 51 and 54, showed extensive fatty atrophy of lower-leg musculature, and progressive and distally accentuated fatty atrophy of anterior and posterior femoral muscles. An outstanding finding in the first MRI was the presence of marked edema of anterior femoral musculature, which to a great degree was replaced by fatty atrophy in the second study. Muscle edema was also noted in lower-leg and posterior femoral musculature. There was minimal fatty atrophy of the gluteus maximus, the remaining pelvic muscles being preserved. The other ten patients showed mild or moderate phenotype, which remained quiescent over the period of observation. Electrophysiological studies disclosed diffuse and uniform slowing of nerve conduction velocities; in no case was spontaneous muscle activity recorded. MRI showed the CMT1A characteristic pattern of distally accentuated fatty atrophy involving foot and lower-leg musculature with preservation of thigh musculature. We conclude that a small proportion of patients with CMT1A develop a late progression of disease manifested with accentuated distal leg weakness ascending to involve thigh musculature, and that long-term follow-up is essential for its detection.     

Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy: a clinicopathological study

We report an autopsy case of amyotrophic lateral sclerosis (ALS) clinically diagnosed as spinal progressive muscular atrophy (SPMA). The patient was a Japanese woman without hereditary burden. She developed muscle weakness of the distal part of the left lower extremity at age 42, followed by muscle weakness and atrophy of the right lower extremity and upper extremities. At age 57, she needed transient ventilatory support. Slight weakness in the facial muscles and fasciculation of the tongue appeared at age 60. At age 61, she died of sudden respiratory arrest. During the clinical course, neurological examination revealed neither Babinski signs nor hyperreflexia. The neuropathological examination revealed not only neuronal loss with gliosis in the facial nucleus, hypoglossal nucleus, and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tracts. Based on these clinicopathological findings and review of literature, we conclude that sporadic ALS mimicking SPMA is present.     

Quantitative analysis of the features of fasciculation potentials and their relation with muscle strength in amyotrophic lateral sclerosis

This study aimed to quantitatively analyze fasciculation potentials (FPs) and to investigate their relationship with muscle strength in amyotrophic lateral sclerosis (ALS). Fifty-one patients with sporadic ALS or progressive muscular atrophy (25 men, 26 women, mean age of 68 years) underwent needle EMG. We determined the duration, phase number, and amplitude of FPs from three muscles (upper trapezius, biceps brachii, and tibialis anterior) and examined their relations with muscle strength. In total, 878 FPs were analyzed. FP duration displayed a significant negative relation with the strength of all three muscles; the weaker muscles showed longer durations of FPs than the muscles with normal strength. The amplitude and phase number were not related with muscle strength, but there were significant correlations between the duration and amplitude of FPs in the trapezius and tibialis anterior muscles. The longer duration of FPs in muscles with weak strength suggests that the morphological changes of FPs were caused by temporal dispersion through progressively degenerating and/or immature reinnervating motor branches, and were observed uniformly in different muscles along with disease progression.