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)

The activities of four lysosomal and two nonlysosomal hydrolases were studied in skeletal muscle biopsy samples from patients with neuromuscular diseases and from controls. beta-Glucosaminidase activity was increased in polymyositis. beta-Glucuronidase and alkaline protease activities were elevated in muscular dystrophy in adults, whereas cathepsin D activity was increased in amyotrophic lateral sclerosis. There were significant correlations between the activities of lysosomal and nonlysosomal hydrolases. The activity of beta-glucuronidase, beta-glucosaminidase, alkaline protease, and dipeptidyl aminopeptidase IV showed a positive correlation with the severity of muscular atrophy. The activities of these hydrolases and the activity of dipeptidyl aminopeptidase I correlated positively with the activities of muscular galactosylhydroxylysyl glucosyltransferase and with the serum concentration of type III procollagen aminoterminal propeptide. The results suggest that in neuromuscular diseases the lysosomal and nonlysosomal pathways for muscle degradation are affected concomitantly with collagen biosynthesis.
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PMID:Lysosomal and nonlysosomal hydrolases of skeletal muscle in neuromuscular diseases. 635 16

The aim of the present work was to investigate histological localization of newly found human muscle CA-III and its diagnostic value in neuromuscular diseases. The following results were obtained. CA-III was purified as a single band from human skeletal muscle nd specific anti-CA-III antiserum was raised in the rabbits. By the direct immunoperoxidase method in human biceps muscle, CA-III was localized mainly in Type I fibers (red muscle type). A radioimmunoassay was developed for CA-III which can detect 5 ng/ml of sample. Among several human tissues, CA-III was found virtually specific to the skeletal muscles with a level of 5 mg/gm wet tissue. Normal serum CA-III level (n = 20) was 22.5 +/- 15.3 (SD) ng/ml. Among 140 cases of various diseases, elevated serum CA-III levels were found in 29 cases, all of which were only from neuromuscular diseases including 17 various muscular dystrophies, 5 polymyositis, 2 other myopathies and 5 ALS. In acute myocardial infarction with highly elevated CPK, serum CA-III remained normal. In 60 cases of various neuromuscular diseases, serum CA-III, CPK and aldolase were measured. Order of sensitivity (% frequency of elevated serum level) was CPK greater than CA-III greater than aldolase, however, CA-III was most frequently elevated in myotonic dystrophy which predominantly affects Type I fibers. In 15 ALS, raised CA-III was found in 5 cases, which were all in relatively early stages showing rapidly progressive clinical courses. This result raises a possibility to use serum CA-III for evaluation of the prognosis in ALS. It is concluded that CA-III is clinically applicable as a new diagnostic marker for muscle diseases, and probably reflects Type-I fiber abnormalities more sensitively than CPK and aldolase.
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PMID:Human muscle carbonic anhydrase III (CA-III). Purification, immunohistochemical localization in the human skeletal muscle and its clinical application to the neuromuscular disease. 643 Jul 72

A highly sensitive sandwich enzyme-immunoassay (EIA) for human muscle carbonic anhydrase isozyme III (CA-III) has been developed using microplate as a solid-phase and peroxidase as a labelled enzyme. The assay can detect levels as low as 2 ng/ml when 20 microliter of sample sera were used. Sera from patients with various neurological diseases were studied using this method, and elevated serum CA-III levels were found in patients with Duchenne muscular dystrophy, limb-girdle dystrophy, fascioscapulohumeral dystrophy, polymyositis and amyotrophic lateral sclerosis. The values correlated well with the results of radioimmunoassay (RIA), with a correlation coefficient of 0.92 (P less than 0.001). We feel EIA is preferable to RIA for its simple methodology.
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PMID:Development of a highly sensitive enzyme-immunoassay for serum carbonic anhydrase-III. 643 43

Increasing numbers of patients are being recognized with neurological abnormalities associated with the immunochemical changes of plasma cell disease. To illustrate the wide spectrum of clinical disorders that can be found, I discuss in detail 5 patients: 2 with neuropathy, 3 with amyotrophic lateral sclerosis (ALS), all of whom had serum monoclonal paraproteinemia. In addition, I report in tabular form 6 patients with paraproteinemia and the following clinical presentations: 1) systemic lupus with polyneuropathy and severe cerebritis, 2) myasthenia gravis with thymoma, 3) polymyositis, 4) polymyositis, arthritis and Grave's disease, 5) relapsing polyneuritis (one of the original patients diagnosed by Austin) and 6) ALS, dystonia and parkinsonism. Major improvements in clinical condition occurred sometimes, but not always, coincident with reductions in the levels of the paraprotein using prednisone, cyclophosphamide, chlorambucil and plasma exchange treatments even in some of the patients who had the clinical appearance of ALS. Patients with neuromuscular diseases should be routinely screened with serum immunoelectrophoresis for monoclonal gammopathy. If a monoclonal gammopathy is found and if the disease is serious, then those patients should be treated as if they had an autoimmune disorder.
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PMID:Neuropathy and motor neuron syndromes associated with plasma cell disease. 647 86

The regenerative ability of muscles was studied in various neuromuscular disorders by quantitative electron microscopy using two indices of both the satellite cell population and the euchromatin percentage of satellite cell nucleus. Both the number of satellite cells and the euchromatin percentage were increased in polymyositis. Duchenne muscular dystrophy and myotonic dystrophy showed only an increased number of satellite cells without increased euchromatin percentage, while amyotrophic lateral sclerosis had only an increased euchromatin percentage without increased satellite cell number. These results suggest that some defects of satellite cell function probably exist in progressive muscular dystrophy and amyotrophic lateral sclerosis, while in polymyositis the muscle fiber may have the ability to regenerate completely. The euchromatin percentages of myonuclei were increased in polymyositis and Duchenne muscular dystrophy, but not in amyotrophic lateral sclerosis or myotonic dystrophy compared to those of controls. This suggests the activated function of the remaining muscle fibers in polymyositis and Duchenne muscular dystrophy.
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PMID:A quantitative study of the muscle satellite cells in various neuromuscular disorders. 666 77

Serum creatine kinase (CK) levels were recorded in 100 patients with amyotrophic lateral sclerosis (ALS). CK concentrations were elevated in 43% of the patients, with a mean level of 240 U/liter and a range of 59-1,327 U/liter (male normal less than 95 U/liter, female normal less than 59 U/liter). All patients with elevated CK had muscle weakness. Seven patients were initially misdiagnosed as having polymyositis and given high dose corticosteroids without clinical benefit, prior to the diagnosis of ALS. Such diagnostic confusion can be avoided by an awareness that CK levels cannot be used to reliably differentiate between ALS and primary muscle disease such as polymyositis.
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PMID:Elevation of creatine kinase in amyotrophic lateral sclerosis. Potential confusion with polymyositis. 682 16

Immunofluorescence studies using specific antibodies against collagen of types I, III, IV, and V were carried out on muscle biopsy specimens from 22 patients with various neuromuscular disorders and seven controls. Increased staining with all antibodies was seen in the patients with polymyositis and muscular dystrophy. Increased staining with types I and III antibodies was found in the samples from the patients with amyotrophic lateral sclerosis in cases with an elevated concentration of muscular hydroxyproline. Two patients with amyotrophic lateral sclerosis showed no accumulation of collagen, and this was similarly true of the polyneuropathy cases. An accumulation of types IV and V collagen was typical for the myotonia congenita samples. The immunohistochemical results were in good agreement with the biochemical findings from the same patients.
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PMID:Changes in collagen metabolism in diseased muscle. II. Immunohistochemical studies. 713 17

Peroxidase-conjugated alpha-bungarotoxin (P-BGT) was used for the ultrastructural localization of the acetylcholine receptor in motor endplates. Brachial biceps muscle specimens were obtained from six patients with myasthenia gravis (MG) (two ocular and four generalized), five other patients with neuromuscular diseases (limb-girdle dystrophy, polymyositis, and amyotrophic lateral sclerosis) and two controls. In all patients with generalized MG, most of the endplates showed a marked decrease in P-BGT binding. In one of two patients with ocular MG, the amount and distribution of P-BGT binding appeared normal, whereas the other patient showed a slight decrease in P-BGT binding. There was a loose correlation between clinical severity of MG and acetylcholine receptor index or antiacetylcholine receptor antibodies. On the other hand, the amount and distribution of acetylcholine receptor in other neuromuscular diseases was well preserved, even at the endplates denuded of their nerve terminals in amyotrophic lateral sclerosis (ALS) cases.
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PMID:Ultrastructural localization of acetylcholine receptor at the motor endplate: myasthenia gravis and other neuromuscular diseases. 719 15

We attempt to correlate the patient's disability and serum enzymes (creatinekinase, lactic dehydrogenase, aldolase, glutamic oxalacetic and glutamic piruvic transaminase) in several neuromuscular disorders using the Vignos and Archibald scale (V&A). In 806 cases we studied, serum enzyme levels and the V&A disability using a computer for Pearson's correlation and regressive analysis. A good correlation of the V&A with age suggested a progressive evolution (increased disability) in Duchenne muscular dystrophy, fascioscapulohumeral dystrophy, myotonic dystrophy, myopathies due to respiratory chain enzyme deficiency and amyotrophic lateral sclerosis. A negative correlation (decrease disability with age) was found for multicore myopathy, benign myopathy of childhood with type 1 predominance, carnitine myopathy deficiency and dermatomyositis. It was found a correlation (p < 0.05) of the V&A and the level of specific serum enzymes with Duchenne muscular dystrophy, oculocraniosomatic dystrophies, polymyositis and polyarteritis nodosa. Using regression analysis, we found a weak interrelation between serum enzymes studied simultaneously and the V&A. These weak relations suggest some limitation in the long term use of the five serum enzymes in the evaluation of neuromuscular disorders when compared with V&A; although they are very important in the diagnosis.
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PMID:[Correlation between functional disability, age, and serum enzymes in neuromuscular diseases]. 757 10

Activities of nine lysosomal enzymes and pH-dependent isozyme patterns of alpha-mannosidase were examined in the skeletal muscle of patients with neuromuscular diseases, and the ratios of these enzyme activities in leukocytes to those in myocytes (L/M ratio) were determined. The activities of enzymes with a high L/M ratio were markedly increased in the muscles of patients with Duchenne muscular dystrophy (DMD), myotonic dystrophy (MyD), or polymyositis (PM). In contrast, those which showed a low L/M ratio were increased in the muscles of amyotrophic lateral sclerosis (ALS) and disuse muscle atrophy (DUA). The isozyme pattern of alpha-mannosidase in DMD muscle resembled that in leukocytes, while those in ALS and DUA muscle resembled that in normal muscle. These results may suggest that the increased activity of lysosomal enzymes in the muscles of patients with DMD, MyD, or PM is due primarily to infiltrating leukocytes, while that in patients with ALS or DUA is due to intramyofiber lysosomes.
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PMID:Lysosomal enzyme activities in skeletal muscle of patients with neuromuscular diseases. 764 62


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