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 the aminotransferases, GOT and GPT, were determined in the serum and cerebrospinal fluid of patients with Parkinson's disease, Huntington's chorea, Wilson's disease, amyotrophic lateral sclerosis (ALS), Friedreich's ataxia, phenylketonuria, and head injuries. 1. In patients with Huntington's chorea the activity of SGOT was lower than in controls (P = 0.02); in Friedreich's ataxia LGPT activity was decreased (P less than 0.001); in patients suffering from ALS SGOT (P = 0.005), SGPT (P less than 0.001) and LGOT (P less than 0.001) activities were increased. 2. Long-term treatment of Parkinson's disease and Wilson's disease with L-dopa resulted in an increase in SGOT, LGOT, and SGPT activity over approximately 2 months, with subsequent normalization of these enzyme activities in spite of continued therapy. Guanidine treatment led to an increase in aminotransferase activities in patients with ALS. Penicillamine caused a decrease in SGOT and SGPT activities in Wilson's disease. These results illustrate the necessity of taking therapeutic measures into account in the interpretation of data on aminotransferase activities.
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PMID:[The activity of aminotransferases in serum and cerebrospinal fluid in neurological diseases (author's transl)]. 12 63

Cultures of a mouse cell line (PAM) were treated with 71 multiple sclerosis (MS) and 45 non-MS samples. Of the cultures treated with MS material, 80 percent (58) showed a reduction in cell yield (compared to untreated controls) of at least 20 percent by the third passage after inoculation. The MS samples were from 40 MS cases, and a total of 36 cases yielded at least one positive sample. The agent responsible for the decrease was not limited to nervous tissue, but was also found in serum, cerebrospinal fluid, spleen, kidney, and lymph node of MS patients. Positive samples were present at every stage of the disease. None of the non-MS samples yielded cell counts significantly different from untreated controls. The non-MS category included 12 samples from healthy individuals, 13 assorted non-central nervous system disease samples, and the following central nervous system disease samples: six subacute sclerosing panencephalitis, three Huntington's chorea, two Parkinsonism, six amyotrophic lateral sclerosis, one stroke, one encephalopathy, and one epilepsy. Brain homogenates from mice inoculated with MS tissues elicited the decrease, whereas brain homogenates from mice inoculated with non-MS samples did not.
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PMID:Multiple sclerosis-induced reduction in the yield of a mouse cell line. 112 Jun 12

We report the case of a patient who presented with both amyotrophic lateral sclerosis and Huntington's disease. Interestingly, aspartate level was increased in the lumbar CSF. In vitro and in vivo studies have convincingly suggested that these two neurodegenerative diseases could be related to an excitotoxic mechanism.
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PMID:[Familial amyotrophic lateral sclerosis associated with Huntington chorea with increased aspartate level in the cerebrospinal fluid]. 153 26

BC200 RNA is a polyadenylated 200 nucleotide primate brain-specific transcript with 80% homology to the left monomer of the human Alu family of repetitive elements. Whether this transcription product contributes anything to normal brain gene function or is a residue of post transcriptional processing of brain heterogeneous nuclear RNA (hnRNA) is uncertain. However, the high abundance, tissue-specific expression and nucleotide sequence characteristics of BC200 RNA suggests that the generation of this small RNA is associated with some brain cell function. Sustained levels of the BC200 RNA transcript may be indicative of a genetically competent and normally functioning cerebral neocortex. In this investigation, we have measured the abundance of the BC200 RNA transcript in total RNA isolated from 18 temporal neocortices (Brodman area 22) of brains with no pathology and those affected with neurodegenerative disease. Neocortices were examined from 3 neurologically normal brains, 5 non-Alzheimer demented [NAD; 3 Huntington's chorea (HC), 1 amyotrophic lateral sclerosis (ALS) and 1 dementia unclassified] and 10 Alzheimer disease (AD) affected brains. Our results indicate a strong BC200 presence in both the normal brains and NAD affected neocortices, but a 70 per cent reduction in BC200 signal strength in AD afflicted brains. These results may be related to the observation that Alzheimer brains exhibit marked deficits in the abundance of neuron-specific DNA transcripts; these deficits are consistent with the idea that AD is characterized by an impairment in the primary generation of brain gene transcription products.
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PMID:BC200 RNA in normal human neocortex, non-Alzheimer dementia (NAD), and senile dementia of the Alzheimer type (AD). 160 65

The enzymatic activity of acetylcholinesterase (AchE) in the cerebrospinal fluid (CSF) is considered to be a marker of central cholinergic neuron integrity. Then, we evaluated CSF AchE activity in 90 cases of neurological diseases involving cholinergic system and their related disease, and 28 control cases without central organic lesions or abnormal findings in routine CSF study. AchE activity was evaluated according to Ellman's method using acetylthiocholine iodide as a substrate and tetraisopropyl-pyrophosphoramide, a specific inhibitor of butyrylocholinesterase. CSF AchE of Alzheimer type dementia (AD/SDAT, N = 12: 21.9 +/- 4.7 nmol/ml/min) showed no significant change from those of both control group (22.1 +/- 3.9) and vascular dementia (9: 21.7 +/- 6.7). In extrapyramidal diseases, reduction of the activity was observed in Huntington's chorea (HC, 4: 16.3 +/- 1.4) and progressive supranuclear palsy (PSP, 4: 17.6 +/- 1.7), whereas normal activity was shown in Parkinson's disease (PD, 19: 22.5 +/- 4.6), dentatorubropallidoluysian atrophy (DRPLA, 4: 22.6 +/- 4.2) and striatonigral degeneration (SND, 4: 20.4 +/- 4.3). In olivopontocerebellar atrophy (OPCA, N = 16), we disclosed reduced CSF AchE activity (15.8 +/- 2.4) which had significant correlations with the atrophy of the pontine base (r = 0.6017, p less than 0.02) and cerebellar vermis (r = 0.5450, p less than 0.05) in MRI. AchE activity in cerebellar cortical atrophy (CCA, 5: 20.6 +/- 2.2) remained within the control values. Normal activity was demonstrated in both amyotrophic lateral sclerosis (6: 24.3 +/- 7.3) and spinal muscular atrophy (4: 22.9 +/- 3.9).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[CSF acetylcholinesterase activity in central neurological diseases involving cholinergic systems]. 162 49

Acidic excitatory amino acids have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS). We now report that, in addition to selective regional reductions in endogenous aspartate and glutamate, N-acetylaspartate (NAA), and N-acetylaspartylglutamate (NAAG) are also decreased in the CNS, whereas the activity of N-acetylated-alpha-linked-amino dipeptidase (NAALADase) is increased. In cervical cord, the concentrations of aspartate and glutamate were decreased significantly in the ventral horn; NAA was decreased in the ventral horn, dorsal horn and ventral column, whereas NAAG was decreased in all regions of the cord examined, except the posterior column. NAALADase activity was increased in the ventral column. In motor cortex of ALS patients, aspartate and glutamate were decreased and NAALADase activity was increased in both gray and white matter; whereas NAAG was decreased in gray matter alone. None of these parameters was affected in the cerebral cortex of the Huntington's patients. Of the markers examined, the alterations in the levels of NAAG most closely parallel the cellular neuropathology in ALS.
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PMID:Reductions in acidic amino acids and N-acetylaspartylglutamate in amyotrophic lateral sclerosis CNS. 168 6

Over the past decade experimental data obtained from animals have suggested that restoration or preservation of function through cell transplantation into the CNS might be developed into a useful therapeutic approach in human neurodegenerative disorders. Clinical trials in patients with Parkinson's disease have provided evidence that grafts of fetal dopaminergic neurons can survive and induce functional effects in the human brain, but no treatment based on transplantation is available yet. Initiation of studies of patients with striatal neural grafts in Huntington's disease is supported by findings in animal models, and is motivated by the lack of therapy and the severity of the symptoms in this disorder. Application of cell transplantation to other neurodegenerative disorders such as Alzheimer's disease, amyotrophic lateral sclerosis, and hereditary ataxia is definitely premature. Further progress can be made only by systematic studies in animals of the scientific issues that can now be defined, but will also require clinical trials in a few well-monitored patients.
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PMID:Prospects of transplantation in human neurodegenerative diseases. 172 46

The Eighth International Neurotoxicology Conference, Role of Toxicants in Neurological Disorders (1990), evaluated the evidence that chemical exposures may play a role in the development of neurodegenerative disorders. This article describes the major neurodegenerative disorders (Amyotrophic Lateral Sclerosis, Huntington disease, Parkinson disease, and Alzheimer disease) addressed at the conference, followed by a description of test systems or models developed to study behavioral aspects of these disorders in animals. However, due to the complexity of the disorders and the species in which they are found, fully-developed models in animals of neurodegenerative disorders are lacking. This suggests the need for a clear strategy for selecting behavioral tests in animals to study aspects of any neurodegenerative disorders. Such a strategy is here exemplified for Alzheimer disease (AD) as a prototypical neurodegenerative disorder. Since an animal model cannot provide the full range of effects of human neurodegenerative diseases, particularly AD which produces incompletely characterized cognitive deficits, a rodent model must at this time be drawn from multiple sources, including: (1) Tests currently used to identify in rodents deficits associated with AD; (2) tests to identify Alzheimer-related signs in patients; and, (3) tests that relate to theoretical constructs of human and animal cognition. A battery that draws from those sources could include tests of: (a) Spatial learning and memory (Morris Water Maze and Radial Arm Maze), (b) delayed recall match-to-sample; (c) serial response learning; and, (d) visual discrimination (e.g., vertical vs. horizontal stimuli). This battery will identify behavioral changes characteristic of early-, middle- and late-stage AD, afford the potential to relate the findings to theoretical constructs of cognition, and evaluate learning capabilities not previously studied in rodent models of neurodegenerative disorders.
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PMID:Animal test systems to study behavioral dysfunctions of neurodegenerative disorders. 174 32

Since a parental sex effect has been reported in Huntington's disease, we looked to see whether a similar effect is apparent in adult (autosomal dominant) familial ALS. We analyzed the data for 145 patients, with an onset age range of 20 to 68 years and a known affected parent (AP), from 52 families described in the literature. There was a significant increase in the percentage of patients inheriting the gene from an affected mother as a function of the age at onset. There was also a significant correlation between AP and offspring age at onset only when the AP was the mother.
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PMID:Parental sex effect in familial amyotrophic lateral sclerosis. 186 20

Dendritic spheroid bodies (SBs) and Lewy bodies (LBs) were identified in comparable numbers in the substantia nigra pars compacta (SBC) of nine parkinsonian cases and one case of striatonigral degeneration but were not found in cases of Huntington's disease or neurologically normal controls. The immunohistochemical profile of the SBs in dystrophic dendrites of nigrostriatal dopaminergic neurons was remarkably similar to that of the LBs found within dendrites or free of the SNC neuropil. Both types of inclusions stained positively with antibodies to tyrosine hydroxylase, ubiquitin and microtubule-associated protein-2 (MAP2), and negatively for Tau-2, although they had different ultrastructural appearances. A few intracellular LBs were stained by antibodies to neurofilament proteins (NFs) 68, 160, and 200 kD, but dendritic SBs and extracellular LBs were not so stained. These data indicate that dendritic SBs and extracellular LBs may have a common molecular pathogenetic origin in Parkinson's disease. On the other hand, the SBs seen in the pars reticulata (SNR) and in the distal nigrostriatal axons even in control cases were generally stained by antibodies to NFs and ubiquitin but not to MAP2. This latter staining pattern in similar to that shown by SBs in the anterior horn in ALS and in the cerebellum of neurologically normal brains and is believed typical of axonal as opposed to dendritic SBs.
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PMID:Two types of spheroid bodies in the nigral neurons in Parkinson's disease. 191 62


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