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)

During a 16-year period 672 patients were admitted to the Columbia Presbyterian Medical Center with spastic paraplegia-paraparesis (SPP) as a prominent finding. Group I. 520 patients (77.3%) had either a familial disorder, sensory findings, other neurological signs, or a diagnosis obvious on admission by history, examination or plain spine roentgenograms. Group II. In 108 patients (16.2%) diagnosis was reached after more extensive investigation. In 78 of these a cause other than multiple sclerosis was found including spinal cord tumor, arteriovenous malformation and cervical spondylotic myelopathy. Thirteen patients had probable multiple sclerosis on the basis of additional signs emerging, and 17 were considered to have possible multiple sclerosis on the basis of elevated CSF gamma-globulin. Group III. In 44 patients (6.5%) no cause for SPP could be found. Diagnostic considerations for this group included amyotrophic lateral sclerosis, multiple sclerosis, unappreciated structural lesions, hereditary disease, and "primary lateral sclerosis".
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PMID:Spastic paraplegia-paraparesis. A reappraisal. 615 77

In over 1200 cases examined by isoelectric focusing of CSF and serum proteins, 4 patients had benign monoclonal gammopathy. These patients were affected by amyotrophic lateral sclerosis of bulbar onset, sensitive neuropathy of Thevenard type, myasthenia gravis, and limb-girdle muscular dystrophy, respectively. The difficulty to relate the differences in the clinical features of these cases to a common physiopathological mechanism and the incidence of this finding (0.4% in 873 cases ranging from 21-60 years of age) do not seem to suggest any pathogenetic relationship between benign monoclonal gammopathy and the different neurological disorders encountered in these patients.
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PMID:Neuromuscular diseases associated with benign monoclonal gammopathy. Study of CSF and serum proteins by isoelectric focusing. 695 87

Free thiamin and thiamin monophosphate levels were determined by an electrophoretic fluorometric micromethod in plasma and CSF of patients with amyotrophic lateral sclerosis (ALS), alcoholics, and controls. In plasma of patients with ALS as well as in plasma and CSF of alcholics, both thiamin and thiamin monophosphate concentrations were decreased so that the thiamin-thiamin monophosphate (T/TMP) ratio remained unchanged compared with that of controls. In CSF of patients with ALS, however, thiamin monophosphate values decreased much more than thiamin levels, so that the T/TMP ratio was significantly increased. The selective impairment of thiamin monophosphate production by nerve cells is likely to result from the reduction of the activity of thiamin pyrophosphatase, an enzyme synthetized and highly concentratd in the Golgi complex. Thiamin pyrophosphatase is known to diminish in ALS as well as in experimental motor neuronal degeneration or axotomy. Thus, the T/TMP ratio could be taken as an index of the impairment of neuronal protein synthesis in ALS.
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PMID:Thiamin monophosphate in the CSF of patients with amyotrophic lateral sclerosis. 710 99

Two hundred patients with chronic neurolathyrism were clinically examined, 25 to 35 years after exposure to the lathyrus sativus pea. All the patients were prisoners in a labour camp under similar nutritional and physical conditions at the outbreak of the syndome. The main symptoms were spastic paraparesis and a neurogenic bladder, both of varying degree. In addition lower motor neuron involvement with muscular atrophies was noticed in 14 cases and simulated amyotrophic lateral sclerosis. A lathyric sensory neuropathy was found in 12 patients. No cranial lesions or psychiatric disorders were found. Laboratory tests including 5 CSF specimens were normal. HLA typing was unremarkable. Our overall impression was that chronic neurolathyrism in the long run shows a gradually slow progressive course.
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PMID:Human neurolathyrism, a follow-up study of 200 patients. Part I: Clinical investigation. 724 73

The CPK, aldolase, GOT, GPT, and LDH concentrations in the serum and lumbar CSF of 80 patients with neuromuscular diseases and 20 controls were measured. The value obtained in serum was essentially in agreement with the data in the literature. This is the first publications reporting on regular CSF enzyme examinations in different neuromuscular disorders, particularly the results obtained in neurogenic muscular atrophies, which have certain characteristic features. The LDH activity in CSF was decreased in peroneal muscular atrophy, the GPT concentration in CSF was elevated in spinal muscular atrophy, and the mean activity of CSF aldolase was increased in amyotrophic lateral sclerosis. The simultaneous determination of enzymes in serum and CSF can provide valuable information in the research of certain details of pathomechanisms and thus lead to further improvement of diagnosis.
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PMID:Investigations on enzyme activity in the serum and CSF of patients with neuromuscular diseases. 731 27

The lead concentration in CSF was determined by flameless atomic absorption spectrophotometry in 16 ALS patients and 22 control cases. The mean values were 0.69 +/- 0.55 (ALS) and 0.41 +/- 0.37 (controls), P < 0.01. This confirms our earlier findings of raised CSF lead levels in ALS but the present values are lower than previously reported for both ALS patients and controls.
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PMID:Abnormal distribution of lead in amyotrophic lateral sclerosis--reestimation of lead in the cerebrospinal fluid. 744 Dec 89

Cysteine and its metabolites cysteine sulphinic acid (CSA) and taurine (TA) were shown to be toxic to human and rat neuronal cell lines. However, the mechanisms of action of CSA and TA appeared to be different. As MND/ALS patients have high plasma and CSF cysteine levels, they may have increased levels of neurotoxins in vivo, since cysteine was more toxic than CSA in the assay system used. Cysteic acid, homocysteic acid, BMAA and BOAA were also toxic to the cell lines used.
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PMID:Toxicity of sulphur-containing compounds to neuronal cell lines. 759 98

The discovery of mutations in the gene for Cu/Zn superoxide dismutase (SOD) in some cases of familial amyotrophic lateral sclerosis (FALS) provides a rationale for enzyme replacement therapy. The inability of SOD to cross the blood-brain barrier motivated this study of the safety, tolerability and pharmacokinetics of bovine SOD (bSOD) administered into the CSF of rhesus monkeys and one late-stage, SOD-deficient FALS patient. Kinetic analyses in the patient indicated that intracerebroventricular (i.c.v.) administration, but not lumbar administration, delivered bSOD to the entire CSF pathway. Daily bolus i.c.v. injections (32 mg/day) and continuous i.c.v. infusion (30 mg/day) were well tolerated by the patient. During the period of daily bolus injections, the patient's performance on manual muscle tests was nearly stable, in contrast with the rapid decline before and after that period. These results justify further investigation of bSOD therapy in SOD-deficient FALS patients.
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PMID:Pharmacokinetics and tolerability of ventricularly administered superoxide dismutase in monkeys and preliminary clinical observations in familial ALS. 759 4

CSF investigation in a 61-year old female patient with clinical picture of motoneuron disease gave evidence for chronic infection with Borrelia burgdorferi. Improvement of clinical and CSF findings could be observed after antibiotic therapy. The diagnosis of amyotrophic lateral sclerosis which was initially suspected had to be revised and the disorder was interpreted as chronic neuroborreliosis.
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PMID:[ALS-like sequelae in chronic neuroborreliosis]. 761 Jun 70

Paired cerebrospinal fluid and serum samples of patients with amyotrophic lateral sclerosis (n = 35) revealed no consistent abnormalities of CSF cell count, CSF albumin, CSF IgG, CSF IgM, IgG or IgM index, or oligoclonal immunoglobulin band formation in the CSF. Determination of IgG and IgM CSF and serum antibodies to gangliosides GM1, GM2, GM3, AGM1, GD1a, GD1b, and GT1b showed a characteristic pattern which allowed the differentiation of amyotrophic lateral sclerosis from controls and from patients with other neurological disorders including multiple sclerosis. Specifically, patients with the disease had elevated CSF IgM antibodies to all gangliosides except AGM1. The lack of correlation between the CSF findings and corresponding serum antibodies suggests a chronic, compartmental, intrathecal immune response of low activity in amyotrophic lateral sclerosis. Whether this immune response is primary and of pathogenetic significance, or an epiphenomenon of neuronal degeneration, remains to be investigated.
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PMID:A characteristic ganglioside antibody pattern in the CSF of patients with amyotrophic lateral sclerosis. 773 82


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