Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

From 1984 to 1988, 11 of 120 patients (9%) with motor neuron disease (MND) had paraproteins detected by serum immunofixation electrophoresis (IFE), compared with 4 (3%) by cellulose acetate gels: 1 patient had progressive spinal muscular atrophy, 5 patients had amyotrophic lateral sclerosis (ALS), and 5 patients had ALS with probable upper motor neuron signs. Four of 5 patients (80%) with cerebrospinal fluid (CSF) protein content above 75 mg/dl had paraproteins, as did 6 of 30 with values above 50 mg/dl. Four of 14 patients with cerebrospinal oligoclonal bands (OCB) also had paraproteins. Two patients with ALS, CSF protein content above 75 mg/dl, and paraproteinemia had lymphoma. We conclude the following about patients with MND: high CSF protein content (especially above 75 mg/dl) or CSF OCB makes paraproteinemia more likely; some of these patients may have lymphoma; there is an inordinately high occurrence of paraproteinemia in MND; and IFE on agarose is more sensitive than electrophoresis on cellulose acetate in detecting paraproteins. Syndromes of paraproteinemia and high CSF protein are not restricted to the lower motor neuron but qualify as "ALS" with coexisting upper motor neuron signs.
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PMID:Motor neuron disease and amyotrophic lateral sclerosis: relation of high CSF protein content to paraproteinemia and clinical syndromes. 199 91

We examined median somatosensory evoked potentials (SEPs) in 26 patients with sporadic motor neuron disease (MND). SEPs were recorded with multiple scalp derivations, using both the midfront and the earlobe as references for each subject. Central conduction time (CCT) was abnormal in three patients, but only when using the midfront reference. Moreover, an exclusive alteration of the early prerolandic potentials (absent or delayed P20 and/or P22) was noted using the earlobe reference in amyotrophic lateral sclerosis and in progressive bulbar palsy (54% and 50% of patients, respectively) but not in progressive muscular atrophy. These findings correlated with clinical evidence of upper motor neuron signs and with the severity of the disease. In agreement with recent views regarding the sources of the early anterior cortical responses, neuronal loss in the motor cortex may be considered as affecting the generator sites of these potentials.
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PMID:Far-field and cortical somatosensory evoked potentials in motor neuron disease. 232 1

In an attempt to ascertain the role of aluminium in sporadic motor neuron disease (MND), trace metals were estimated in blood, plasma and cerebrospinal fluid (CSF) of 38 patients of sporadic MND and 30 controls by direct current plasma emission spectrophotometry. CSF aluminium levels (20.76 +/- 4.38 micrograms/dl) were significantly higher (P less than 0.05) in those patients of MND who presented as progressive bulbar palsy (PBP) as compared to the other subtypes of MND (amyotrophic lateral sclerosis = 7.71 +/- 2.01 micrograms/dl; progressive muscular atrophy = 10.01 +/- 2.41 micrograms/dl) and controls (11.63 +/- 2.82 micrograms/dl). Aluminium may be important in the etiopathogenesis of a subgroup of sporadic MND.
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PMID:Role of aluminium in sporadic motor neuron disease. 234 14

We investigated the epitope specificity of monoclonal antibodies (M-proteins) from two patients with motor neuron disease and IgM monoclonal gammopathy. In previous studies, both M-proteins bound to gangliosides GM1 and GD1b which share Gal(beta 1-3)GalNAc as their terminal structure, and to lacto-N-tetraose-BSA which has the structure Gal(beta 1-3)GlcNAc(beta 1-3)Gal(beta 1-4)Glc-BSA. In this study we show that the serum IgM from both patients bind to bovine serum albumin (BSA) glycoconjugates of both Gal(beta 1-3)GalNAc and Gal(beta 1-3)GlcNAc. Binding was detected at serum dilutions of up to 1:100,000, and absorption with Gal(beta 1-3)GlcNAc-BSA completely removed the IgM binding to Gal(beta 1-3)-GalNAc-BSA, indicating that the same antibodies bound to both epitopes. Low levels of antibodies to Gal(beta 1-3)GlcNAc-BSA and to Gal(beta 1-3)GlcNAc-BSA were also detected in patients with amyotrophic lateral sclerosis (ALS) and in normal subjects at serum dilutions of up to 1:500, but these did not have the same specificity as the M-proteins, as binding to Gal(beta 1-3)GalNAc-BSA was not inhibited by absorption with Gal(beta 1-3)GlcNAc-BSA.
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PMID:Monoclonal IgM in two patients with motor neuron disease bind to the carbohydrate antigens Gal(beta 1-3)GalNAc and Gal(beta 1-3)GlcNAc. 245 3

Oculomotor disorders have been considered to be one of the negative symptoms in motor neuron disease (MND). However, recently, ophthalmoplegia, abnormal Bell's phenomenon and disturbance of pursuit movement have been reported. We tried to evaluate 32 patients with MND (19 males and 13 females; age, 35 to 77 years; 52.4 +/- 10.1 years) by bedside examination and electro-oculography (EOG) using an eye tracking method. Twenty-three of them were classified as amyotrophic lateral sclerosis (ALS) and seven as bulbospinal muscular atrophy, and two were unclassified. One hundred healthy persons for bedside examination and twenty-two for EOG were investigated as controls. Findings by bedside examinations were as follows; 1) Slight limitations of upward only, up & downward and upward & horizontal gaze were observed in 5 cases (15.6%), 1 case (3.1%) and 1 case (3.1%), respectively. 2) Incomplete convergence was observed in 11 cases. (34.4%) 3) Horizontal gaze nystagmus was observed in 6 cases. (18.8%) 4) As regards the frequency of limitation of upward gaze and incomplete convergence, there were no statistically significant differences from those in controls. Electrooculographic results were: 1) square wave jerks (SWJs) were recorded in 3 cases. (9.4%) 2) Amplitude ratio of saccade was significantly higher in MND than that in controls with the risk less than 0.1%. 3) The degree of ocular dysmetria was significantly higher in MND than that in controls with the risk less than 0.5%. These abnormalities were not directly related to suffering period. Although the mechanism is not known, several reports of the effectiveness of thyrotropin releasing hormone (TRH) in ALS were recently published.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Analysis of oculomotor disorders in motor neuron disease]. 251 55

Antibodies to human spinal-cord proteins in sera from patients with motor neuron disease (MND) and other neurological diseases were detected by the immunoblotting method. IgG in serum from a patient with amyotrophic lateral sclerosis reacted with insoluble proteins in the crude nuclear subfraction but the IgG in serum from other patients reacted with soluble proteins. The molecular weights of the antigens on the blots differed among the cases. The significance of the antibodies to neural tissue in sera from MND remains unknown. The etiology of MND is thought to be heterogenous and some types of MND may be closely related to humoral immunity.
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PMID:Antibodies to human spinal cord proteins in sera from patients with motor neuron disease and other neurological diseases. 260 37

The causes of human amyotrophic lateral sclerosis (ALS) and the spinal muscular atrophies (SMA) are, almost without exception, unknown. This ignorance has stimulated the search for animal models to obtain insight into the etiology, pathogenesis and biochemical mechanisms underlying the human disorders. None of the 38 animal models, described in this review, provides an exact animal copy of a specific human motor neuron disease. Most of the models reproduce certain structural or physiological aspects of their human counterparts. The various experimental models can be classified according to the pathogenetic mechanism involved and according to the structural changes observed. Models based on experimentally induced disease, include heavy metals and trace elements (lead intoxication in guinea pigs, rabbits, rats, cats and primates; mercury intoxication in rats; aluminium intoxication in rabbits; swayback in goat kids; calcium and magnesium deficient rabbits and primates and calcium deficient cynomolgus monkeys), toxins (IDPN, vincristine, vinblastine, podophyllotoxin, colchicine, maytansine, maytanprine, L-BMAA, lectins, adriamycin), nutritional factors (ascorbic acid deficient guinea pigs), virus infection (spongiform polioencephalomyelitis, attenuated poliovirus, lactate dehydrogenase-elevating virus), and immunological factors (immunization with motor neurons). Hereditary models comprise hereditary canine spinal muscular atrophy, hereditary neurogenic amyotrophy in the pointer dog, Stockard paralysis, Swedish Lapland dog paralysis, "wobbler" mouse, "shaker" calf, and hereditary spinal muscular atrophy in zebra foals, crossbred rabbits,
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PMID:Animal models of amyotrophic lateral sclerosis and the spinal muscular atrophies. 267 Dec 67

Immunocytochemistry with antibodies against cytoskeletal proteins has been used to search for molecular differences in the spinal cord from patients with motor neuron disease (MND) of amyotrophic lateral sclerosis type and normal spinal cord. Monoclonal antibodies which recognize phosphorylated neurofilament epitopes diffusely labelled a proportion of normal and MND anterior horn cells, but did not permit differentiation between normal and MND tissue. However, in some MND and control anterior horn cells, dense 'floccular' accumulations were labelled by antibodies recognizing phosphorylated neurofilament epitopes. These accumulations of phosphorylated neurofilaments suggest abnormalities of cytoskeletal regulation, but were neither a common nor a specific feature of MND. Axonal spheroids, which were as common in normal as in MND tissue, were labelled by all antineurofilament antibodies. Normal-appearing axons, but not spheroids, in MND and control tissue were identified by an antiactin antibody, indicating that actin may be absent from the cytoplasmic domain which gives rise to spheroids. In summary, we have not found specific posttranslational changes of cytoskeletal proteins in MND and, in particular, phosphorylated neurofilament epitopes are common to both MND and control anterior horn cells.
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PMID:Cytoskeletal abnormalities in motor neuron disease. An immunocytochemical study. 270 43

The aberrant pyramidal tracts in the pontine medial lemnisci were studied, using standard Sudan III stain, in six cases of chronic pyramidal tract degeneration. Three of the six cases had bilateral or unilateral cerebral destructive lesions, one cervical hematomyelia with rare retrograde pyramidal tract degeneration, one classical amyotrophic lateral sclerosis, and one atypical motor neuron disease with striatonigral degeneration. Except for the latter two cases the aberrant pyramidal tract degeneration was confirmed bilaterally or on the side ipsilateral to the pyramidal tract degeneration in the pontine base. This degeneration could also be found, on careful examination, with other stains, i.e., H & E, Luxol fast blue-periodic acid Schiff and modified Bielschowsky. Significant change was not observed in the medullary medial lemniscus in any case. The different results observed in the aberrant pyramidal tract between the destructive and degenerative disorders might be pathogenetically important. Reservation, however, may be required since the number of the cases of degenerative disorders in this study was limited. A possible factor for this difference is the survival length which might have erased degradation products altogether. Another factor is the sensitivity of Sudan III in comparison with the Marchi's method which might demonstrate more subtle evidence of degeneration but with its intrinsic capricious staining characteristics. The physiological role of the aberrant pyramidal tract, which has been neglected in the recent textbooks of neuroanatomy, may become of clinical interest with high-quality MRI in cases such as isolated cranial motor nerve palsy without concomitant paralysis of the extremities.
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PMID:[Aberrant pyramidal tract: a study with Sudan III stain]. 280 32

Although respiratory insufficiency is common in the advanced stages of motor neuron disease, some patients may develop distressing respiratory symptoms early in the course of the disease or even present with respiratory failure or arrest. We describe 14 patients with motor neuron disease who were considered for respiratory support; 11 received such support and all derived significant symptomatic improvement without distressing prolongation of life. Of the 8 patients with typical features of amyotrophic lateral sclerosis, 7 had predominant diaphragm weakness and 1 generalized respiratory muscle weakness; 7 received negative pressure ventilation by cuirass which improved both the quality of sleep and exercise tolerance. Three patients with predominantly bulbar disease had nocturnal apnoea or hypoventilation. Two received no support. One, who also developed diaphragm weakness, was treated by a cuirass, continuous positive airway pressure (CPAP), and later nocturnal intermittent positive pressure ventilation (IPPV). Three patients with progressive muscular atrophy had predominant diaphragm weakness or nocturnal apnoea. These patients received nocturnal CPAP, cuirass or IPPV with symptomatic benefit. This series shows that some patients with motor neuron disease, mainly those with symptoms due to respiratory muscle weakness in the absence of severe bulbar impairment, derive symptomatic benefit from supported ventilation.
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PMID:Respiratory complications and their management in motor neuron disease. 280 10


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