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

Muscle biopsies from 5 cases of Werdnig-Hoffmann disease and 4 cases of ALS were investigated by histology and electronmicroscopy. The differences in morphology found in the atrophic muscle fibers in ALS and in W.H. disease consisted mainly in the shape and structure of their cells and the number of the nuclei. Atrophic muscle fibres irregular in shape and size with degenerative changes and accumulated nuclei observed in ALS were markedly different from the picture of the fibres in W.H. disease. The presence of small muscle cells uniform diameter with well preserved architecture and numerous myotube-like cells seem to indicate a foetal defect in children with W.H. disease.
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PMID:Morphological differences between the atrophied small muscle fibres in amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. 127 24

The Golgi-Cox method was used to compare transverse sections of the lumbar cords of amyotrophic lateral sclerosis (ALS) patients and controls. Large anterior horn cells of the control cords could be divided into three groups based on arrangement of the dendrites arising from the soma; bipolar, tripolar and multipolar. Axons could be identified by their characteristic morphology; tapering axon hillocks and initial segments, followed by an increase in caliber at the first myelinated segments. Axons usually emanated from somata, but sometimes from dendrites. Only a single abnormal neuron with a plump soma and very thin dendrites, was seen in the controls. Atrophic neurons were rare in the controls. In ALS, various abnormal changes were found in the anterior horn cells. In some, the axon remained thin and did not attain a normal thickness at the point where one might expect the first myelinated segment. The normal morphology of the dendrites was sometimes disturbed resulting in a poor extension of the dendritic trees, and thin dendrites. This communication is the first description of the Golgi method applied to ALS cases.
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PMID:A Golgi study of the large anterior horn cells of the lumbar cords in normal spinal cords and in amyotrophic lateral sclerosis. 343 13

Ubiquitin has been shown by immunohistochemical studies to be a component of many of the filamentous inclusion bodies that are known in neuropathology. In the current study, we examined the expression of ubiquitin in 14 cases of typical inclusion body myositis, in skeletal muscle specimens from four cases of typical amyotrophic lateral sclerosis, and in muscle specimens from three normal controls. In the cases of inclusion body myositis, rimmed vacuoles were ubiquitin immunoreactive in all cases. Intrasarcoplasmic inclusions were positive in the nine cases that had them. In four cases, there were positive intranuclear inclusions, and in seven, there was homogeneous staining of nuclei. Atrophic fibers and necrotic fibers were positive in 11 and nine cases, respectively. In the cases of amyotrophic lateral sclerosis, atrophic fibers were positive in three cases, and focal nuclear staining was seen in two. In one of the three control cases, a few atrophic fibers had faint sarcoplasmic positivity; no other staining was seen. We conclude that ubiquitin is a component of the inclusions that characterize inclusion body myositis. However, ubiquitin expression in skeletal muscle disease is not pathognomonic of inclusion body myositis.
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PMID:Ubiquitin expression in inclusion body myositis. An immunohistochemical study. 839 51

To investigate disease-related differences of cell death and apoptosis in human denervation atrophy, we studied DNA fragmentation by the terminal deoxynucleotidyltransferase-mediated dUTP-biotin nick end labeling (TUNEL) method in 38 biopsies of clinically nonaffected and affected muscles from patients with sporadic amyotrophic lateral sclerosis (sALS), in 13 muscle biopsies from patients with chronic peripheral neuropathies, and in 8 biopsies from control subjects. In addition, expression of apoptosis-related proteins, bax, bcl-2, and Fas, was studied in 20 biopsies of sALS and 10 chronic peripheral neuropathies. We identified DNA cleavage in 10% of myofibers of patients and in up to 1.5% of control samples. In clinically affected muscles of ALS, a larger amount of TUNEL-positive myofibers (mean 10.5 +/- 5.9%) was detected, similar to chronic peripheral neuropathies (mean 10.0 +/- 7.4%). Atrophic myofibers were immunopositive for bax, bcl-2, and, to a weaker extent, for Fas. However, bax-, bcl-2-, or Fas-positive atrophic myofibers did not reveal consecutive DNA cleavage. Differences between sALS subgroups and chronic peripheral neuropathies were not found. In human denervation atrophy the bcl-2/bax and the FasL/Fas systems are apparently active independently of DNA fragmentation and apoptosis. DNA fragmentation thus displays an additional reaction that is not disease-specific at chronic stages of human denervation processes, probably recapitulating events like skeletal muscle fiber remodeling in embryonic skeletal tissue development.
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PMID:Cell death and apoptosis-related proteins in muscle biopsies of sporadic amyotrophic lateral sclerosis and polyneuropathy. 1143 85

Neuroglia is critically important for controlling the brain homeostasis and for mounting the brain defence against pathological insults. Here, we overview recent data about the role of neuroglia in various types of neurodegenerative diseases (Alzheimer's disease, Parkinson's disease, fronto-temporal dementia, Wernicke encephalopathy, amyotrophic lateral sclerosis and immunodeficiency virus-1-associated dementia). In all these forms of neurodegeneration, astroglia undergoes complex morphological and functional changes. The early and mid-term stages of neurodegenerative processes, and specifically of Alzheimer's disease, are associated with generalised atrophy of astroglia, whereas the later stages are characterised with an astrogliosis and microglial activation linked to neuropathological lesions such as senile plaques. Atrophic changes in astroglia may contribute to the initial cognitive deficits due to reduced glial synaptic coverage and decreased neuroprotection.
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PMID:Neuroglial roots of neurodegenerative diseases? 2116 12