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)

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 extraocular muscle nuclei in one case of Werdnig-Hoffmann disease were examined immunocytochemically using antibodies against phosphorylated neurofilament (pNF) and ubiquitin (UBQ). The oculomotor and trochlear nuclei showed several chromatolytic ballooned neurons. All ballooned neurons contained epitopes of pNF and UBQ. pNF were present mainly in the periphery of the cell in a ring-like shape and were occasionally seen in the center of some cells. On the other hand, the structures stained by the antibody to UBQ were small vesicles or granules and most of them were aggregated in the center of the cell. These distribution patterns of pNF and UBQ may be unique in Werdnig-Hoffmann disease, since similar patterns were reported in other types of neurons of Werdnig-Hoffmann disease but were not seen in two other motor neuron diseases: classical amyotrophic lateral sclerosis, and familial amyotrophic lateral sclerosis with posterior column and spinocerebellar tract involvement.
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PMID:Ubiquitin and phosphorylated neurofilament epitopes in ballooned neurons of the extraocular muscle nuclei in a case of Werdnig-Hoffmann disease. 169 8

Our file comprises bioptic and necroptic materials of skeletal muscles: progressive spinal muscle atrophy of adults 16, amyotrophic lateral sclerosis 12, infantile progressive spinal amyotrophy Werdnig-Hoffmann 9, chronic progressive amyotrophy Oppenheim 6, syringomyelia and syringobulbia 3, conditions after spinal cord accidents. Diagnosis was difficult because one time the neurological marks were at the head and other time the muscular ones. In the clinical picture there was muscle weakness and atrophy, the spontaneous and palpation painfulness was missing. Muscle weakness und its intensity did not correspond to the degree of muscle atrophies. The discrepancies of electromyographic and histopathologic pictures are explained by occurrence of so-called concomitant myopathies, which arise most probably from the disorders of histioceptive-proprioceptive system.
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PMID:Correlation of histopathological and clinical findings in neuromuscular diseases. 183 64

Lower motor neurons of the spinal cord of patients with amyotrophic lateral sclerosis (ALS), Werdnig-Hoffmann's disease (WH), X-linked recessive bulbospinal neuronopathy (X-BSNP) and multiple system atrophy (MSA), all of which were known to involve the lower motor neurons, were immunohistochemically examined by using a monoclonal antibody (Ta-51) specific to phosphorylated epitopes of high molecular weight subunits of neurofilaments. The incidence of Ta-51-positive neurons was significantly increased in ALS, WH and MSA, but not in X-BSNP. Ta-51-positive neurons showed a wide variety of morphological appearances, including neurons with normal appearance, central chromatolysis, simple atrophy and neurons containing massive neurofilamentous accumulation. In aged-control cases, similar Ta-51-positive neurons were observed, although to a much lesser extent. In ALS, spheroids and globules, which were strongly positive for Ta-51, were also significantly increased. Ta-51-positive motor neurons, spheroids and globules appeared in proportional to the number of remaining large motor neurons in ALS.
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PMID:Phosphorylated high molecular weight neurofilament protein in lower motor neurons in amyotrophic lateral sclerosis and other neurodegenerative diseases involving ventral horn cells. 211 Oct 74

The number of large myelinated axons was markedly decreased in almost all the intramuscular nerve bundles included in 32 muscle biopsies from patients with Werdnig-Hoffmann disease compared to that in normals. The morphometric analysis of peripheral nerves in 5 epon-embedded sections also showed a selective loss of larger myelinated fibers. The ultrastructural findings of the nerves were similar to those seen in Wallerian degeneration including axonal degeneration, myelin breakdown with phagocytosis, Schwann cell proliferation forming Schwann cell columns, axonal sprouting and probable remyelination. The earlier and more striking peripheral nerve involvement than that previously believed was not different from that seen in amyotrophic lateral sclerosis (ALS). The earlier damage to the peripheral nerves probably resulted from a degeneration of the anterior horn cells or anterior spinal roots as in ALS rather than from a dying-back process.
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PMID:Peripheral nerve involvement in Werdnig-Hoffmann disease. 277 90

Forty cases of chronic hereditary motor neuropathy (CHMN) were divided into five categories according to the distribution of muscle atrophy; they were proximal, facioscapulohumeral, bulbospinal, distal and scapuloperoneal forms. Their clinical features and laboratory data were analysed, and muscle biopsies from 32 of them were studied by histological, histochemical and electron microscopical methods. An attempt at quantitative assessment of the histological changes was also made. All muscle biopsies showed a mixture of neurogenic and 'myopathic' changes in varying proportions. They showed more 'myopathic' changes than Werdnig-Hoffmann's disease, amyotrophic lateral sclerosis and other neurogenic atrophies except Charcot-Marie-Tooth disease. There was marked variation in the average number of atrophied muscle fibers contained in grouped atrophy. Frequently, deranged internal structure of the muscle fibres was revealed both by histochemical and electron microscopical methods. Based on the evidence of heterogeneity of CHMN in respect of genetics, clinical features and histological changes, it was speculated that CHMN represents a group of diseases which involves primarily different parts of the motor units.
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PMID:A clinico-pathological study of chronic hereditary motor neuropathy. 631 25

Abnormalities were detected by two-dimensional gel electrophoresis in the protein composition of both the dorsal and ventral roots of three of six patients who succumbed to amyotrophic lateral sclerosis (ALS). The abnormalities consisted of a cascade of acidic protein spots on silver-stained gels which were shown by immunoblotting to react with an antiserum to human glial fibrillary acidic protein (GFAP). They were found distal to the normal central nervous system/peripheral nervous system (CNS/PNS) transition zone and were undetected in cervical and lumbar root segments taken at the same distances from the spinal cord of eight control patients. Similar changes were observed in the dorsal and ventral roots of one patient with Werdnig-Hoffmann disease (WHD), while a second patient with WHD had the changes in only the ventral roots. The abnormalities probably reflect the presence of radicular glial bundles, which are pathological extensions of glial cells into the spinal roots, indicating that subclinical changes occurred in the sensory nerves of the affected ALS and WHD patients. While no other qualitative abnormalities were noted on gels of ALS and WHD spinal roots, some quantitative changes may be present.
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PMID:Astrocytic proteins in the dorsal and ventral roots in amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. 650 90

In Werdnig-Hoffman disease, mannosidosis, and Hurler's syndrome, two groups of neurons (the Onuf's and intermediomedial nuclei) in the ventral horn of the mid-sacral region are found to share common selective sparing or vulnerability with the intermediolateral nuclei of the thoracolumbar and sacral regions of the spinal cord. This finding confirms the previous observations on the characteristic involvement or sparing in Fabry's disease (14), Shy-Drager syndrome (17), amyotrophic lateral sclerosis, anterior poliomyelitis, and neuronal intranuclear hyaline inclusion disease (15), and supports the assumption that the Onuf's and intermediomedial nuclei in the ventral horn represent autonomic neurons much as the thoracolumbar and sacral intermediolateral nuclei.
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PMID:Spinal autonomic neurons in Werdnig-Hoffmann disease, mannosidosis, and Hurler's syndrome: distribution of autonomic neurons in the sacral spinal cord. 678 38

Formation of glial bundles in the proximal portion of the ventral nerve roots is described in a 51-year-old patient with the sporadic form of amyotrophic lateral sclerosis (ALS). Although the bundles were relatively fewer, they were identical in morphology and distribution to those consistently found in Werdnig-Hoffmann disease (WHD). The occurrence of glial bundles in ALS, albeit rare, indicates that this phenomenon is not a unique feature of WHD. Similar changes have been observed in several other unrelated conditions, always in association with degeneration of neurons or axons. Thus, outgrowth of astrocytes in the form of glial bundles should be considered a special type of astrocytic reaction at the interface of the central and peripheral nervous systems.
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PMID:Glial outgrowth along spinal nerve roots in amyotrophic lateral sclerosis. 707 55

Contrary to contention that Onuf nucleus is spared in Werdnig-Hoffmann disease (WHD) as it is in ALS, we found central chromatolysis in the Onuf neurons of the sacral cord from all five WHD patients. They were less depopulated but the central chromatolysis appeared more frequently than in anterior motor neurons. In contrast, the sacral autonomic neurons were not affected in any of the five cases. This argues against the view that the Onuf nucleus is autonomic and is spared with other autonomic neurons.
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PMID:Involvement of the Onuf nucleus in Werdnig-Hoffmann disease. 720 84


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