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)

In ten cases of amyotrophic lateral sclerosis, creatine phosphokinase was, without exception, elevated. In 12 cases of other diseases of the central or peripheral nervous system, values were elevated only in two cases of peripheral neuropathy.
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PMID:Diagnostic value of serum creatine phosphokinase in motor neuron disease. 17 74

In 200 patients with neuromuscular diseases the author studied malonic dehydrogenase and lactic dehydrogenase activity comparing it with the activity of serum creatine kinase and aldolase. A significant rise in the values of all these enzymes was found only in the Duchenne type of muscular dystrophy, in polymyositis, and less frequently in the limb-girdle type of muscular dystrophy. Raised activity of creatine kinase and sidolase was observed in mothers and sisters of patients with Duchenne type of dystrophy, in patients with non-progressive myopathy, periodic paralysis, amyotrophic lateral sclerosis and polyneuropathy. With progression of dystrophy the activity of these enzymes decreases.
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PMID:[Serum enzymatic activity in neuromuscular diseases]. 112 44

In 12 patients with amyotrophic lateral sclerosis (ALS) participating in a therapeutic trial with intrathecally applied human fibroblast interferon-beta (IFN-beta) and in 9 untreated ALS patients, we found significantly elevated circulating serum IgG immune complexes (CIC), quantitative immunoglobulin changes, and creatine kinase (CK) elevation; CK reached significantly more often pathological levels in non-bulbar disease. Dermal ultrastructural changes were equally present in all treated as well as untreated ALS patients. Some time ago IL-6 was quantitatively cleaned out of the Fiblaferon-preparation. Erythrocyte sedimentation rate (ESR) rose during intrathecal IFN therapy in 9/10 ALS patients. In 4/4 adequately monitored motoneuron patients, this elevation coincided with a decrease of serum CK, while ESR and CK did not correlate in 60 non-ALS non-IFN neurological controls. Collagen ultrastructure, CSF total protein or barrier function, immune complexes, immunoglobulin quantitation and serum CK may contribute to differentiated diagnosis and should be included in future study protocols.
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PMID:Dermal, serological and CSF changes in amyotrophic lateral sclerosis with and without intrathecal interferon beta treatment. 150 22

We measured with a radioimmunoassay the concentrations of carbonic anhydrase III (CA-III, EC 4.2.1.1) in sera from 68 patients with muscular dystrophy, 10 carriers of Duchenne muscular dystrophy (DMD), and 63 patients with other neurological disorders. The values obtained were compared with those for creatine kinase (CK, EC 2.7.3.2). Serum CA-III was strikingly increased in patients with DMD (mean, 274.4 micrograms/L) and congenital (Fukuyama-type) (182.8 micrograms/L) and limb-girdle (203.7 micrograms/L) dystrophies and positively correlated with the activities of CK in patients with DMD. CA-III concentration decreased with the subjects' age and the severity of the disease, similar to the tendency observed between age or severity and the concentration of CK. We found moderately increased CA-III in patients with polymyositis, myotonic dystrophy, amyotrophic lateral sclerosis, spinal progressive muscular atrophy, or Kugelberg-Welander disease and in carriers of DMD.
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PMID:Carbonic anhydrase III in serum in muscular dystrophy and other neurological disorders: relationship with creatine kinase. 189 62

The incidence of an elevated creatine kinase (CK) in a group of polio patients with delayed weakness (15/29) did not differ from polio patients without delayed weakness (9/31) or others with amyotrophic lateral sclerosis (ALS; 10/21). Mean CK in polio patients without delayed weakness (151 IU/L) was lower than the CK in those with delayed weakness (270 IU/L) or ALS (224 IU/L) (P less than 0.05). An elevated CK in polio patients with delayed weakness did not correlate with new or residual weakness. These findings suggest that muscle overuse is either not important or inadequately measured by CK. Widely distributed fibrillations were associated with an elevated CK for all polio patients combined (P less than 0.01). Fibrillations occurred in more muscles of polio patients with delayed weakness (P less than 0.01) and implies that late denervation may play a role in the development of new weakness in some polio patients.
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PMID:Creatine kinase and fibrillation potentials in patients with late sequelae of polio. 238 58

The phosphomannosyl receptor system is responsible for both the receptor-mediated endocytosis and the intracellular transport of lysosomal enzymes. In the present study this receptor system was examined in affected muscles of patients with various neuromuscular diseases. The total activity of beta-N-acetyl-glucosaminidase, a marker enzyme of lysosomal hydrolases, was significantly elevated in the patients with myopathies (polymyositis and muscular dystrophies) but only slightly increased in those with neurogenic muscle atrophies (amyotrophic lateral sclerosis, polyneuropathy or other neurogenic muscle disease). The increase was most prominent in the group of polymyositis. The content of phosphomannosyl receptors was increased in the patients with myogenic muscle disease but not in those with neurogenic disease. The receptor binding of lysosomal enzymes was saturable and inhibited with mannose 6-phosphate showing the typical characteristics of phosphomannosyl receptors. The characteristics of the receptors were very similar both to control and to diseased muscle samples. When surveying all the material, the content of phosphomannosyl receptors correlated highly significantly with the muscular activity of beta-N-acetylglucosaminidase, muscle atrophy index, and serum creatine kinase activity.
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PMID:Phosphomannosyl receptors of lysosomal enzymes of skeletal muscle in neuromuscular diseases. 284 20

A radioimmunoassay for human skeletal muscle myosin light chain 3 (MLC-3) was developed. The serum level of MLC-3 was evaluated in 143 patients suffering from neuromuscular diseases. Increased MLC-3 level was observed in muscular dystrophies. There were significant positive correlations between serum levels of MLC-3 and creatine kinase (CK) in Duchenne and limb-girdle type muscular dystrophy, but the regression lines were different. Patients with neurogenic amyotrophy, especially amyotrophic lateral sclerosis, also showed elevated MLC-3 levels with or without high CK, and the frequency of increase in MLC-3 was greater than that of CK. The results of the present study suggest that circulating MLC might be a useful marker for muscle breakdown not merely in myopathies but in neurogenic disorders.
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PMID:Increased serum myosin light chain 3 level in neuromuscular diseases. 311 71

Serum concentration of carbonic anhydrase III (S-CA III), a novel marker of type I skeletal muscle cells was measured in 37 patients with neuromuscular diseases (polymyositis, muscular dystrophies, amyotrophic lateral sclerosis, and other neurogenic diseases) and in 24 control patients. Significant elevation in S-CA III was observed in all patient groups. Serum concentration of carbonic anhydrase III correlated positively with serum-creatine kinase. Serum concentration of carbonic anhydrase III was observed to be a more sensitive skeletal muscle marker both in myogenic and in neurogenic muscle affecting diseases than serum creatine kinase.
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PMID:Muscle-specific carbonic anhydrase III is a more sensitive marker of muscle damage than creatine kinase in neuromuscular disorders. 314 47

The corticospinal system is an important central nervous system (CNS) pathway that is implicated in debilitating diseases such as amyotrophic lateral sclerosis and in traumatic injuries to the spinal cord. This study characterizes some of the fundamental biochemical and kinetic properties of normal corticospinal axons, establishing an important reference for studies that aim to elucidate the cellular modifications that result during pathological conditions of these axons. Slow axonal transport which conveys the axonal cytoskeleton as well as cytomatrix constituents, such as many of the metabolic enzymes and regulatory proteins, has been examined. For these studies, [35S]methionine was injected into the sensorimotor cortex of adult male Golden hamsters, and labeled, transported proteins present in corticospinal axons at 1-42 days after injection were assessed using one- and two-dimensional gel electrophoresis/fluorography. The complex group of slow component b (SCb) proteins (including clathrin, actin, enolase, creatine phosphokinase, and many others) was observed to move at a rate of approximately 2 mm/day in adult corticospinal axons. The slow component a (SCa) proteins (tubulins, neurofilament proteins, and actin) were transported at a substantially slower rate of approximately 0.4 mm/day. The biochemical and kinetic properties of slow transport in corticospinal axons were very similar to those previously described in another CNS pathway, axons of retinal ganglion cells, and substantially different from those documented in large, peripheral sensory or motor axons. These findings suggest that some of the basic properties of axonal transport which determine many of the structural and functional properties of axons may be different in the CNS compared to the peripheral nervous system.
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PMID:Biochemical composition and dynamics of the axonal cytoskeleton in the corticospinal system of the adult hamster. 321 Oct 75

A radioimmunosorbent technique was used for the assay of the skeletal muscle specific enzyme, carbonic anhydrase III (CA III). The usefulness of serum CA III determinations for detecting skeletal muscle damage was evaluated by comparing the serum levels of this enzyme and of myoglobin and creatine kinase in 64 patients with neuromuscular disorders and in 13 healthy volunteers before and after a long-distance run. Increased serum CA III levels were found in all patients with muscular dystrophy, chronic polymyositis and amyotrophic lateral sclerosis and in many with myasthenia gravis. In patients with polymyositis who were followed up with repeated blood sampling, the time courses of serum CA III levels, myoglobin levels and clinical symptoms were closely related. In all the runners the serum CA III level immediately after the run was increased. In the present study serum CA III and myoglobin seemed to be equally sensitive as biochemical markers of muscular damage and more sensitive than creatine kinase.
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PMID:Serum carbonic anhydrase III in neuromuscular disorders and in healthy persons after a long-distance run. 393 1


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