Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report two adult patients whose liver biopsy specimens revealed numerous ground-glass hepatocytes due to inclusions resembling Lafora bodies. The inclusions were large, intracytoplasmic, pale, eosinophilic and kidney-shaped and were periodic acid-Schiff positive and HBsAg negative. Immunoperoxidase studies showed that the inclusions were positive for cytokeratins and alpha 1-antitrypsin. In case 1, the inclusions were not membrane-bound and consisted of secondary lysosomes and degenerate organelles including rough and smooth endoplasmic reticulum. In case 2, electronmicroscopy showed the inclusions were not membrane-bound, but consisted of dense granules, fibrils and vacuoles, with appearances very similar to Lafora bodies. Neither patient had myoclonus or epilepsy. Electronmicroscopy is important in differentiating the type of Lafora body like inclusions found in liver biopsies.
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PMID:Ground-glass hepatocytes with Lafora body like inclusions--histochemical, immunohistochemical and electronmicroscopic characterization. 217 43

The Lafora type of progressive myoclonus epilepsy is a rare and fatal familial disease characterized by seizures, myoclonus, and dementia. This diagnosis was confirmed in 2 patients by demonstrating the presence of intracytoplasmic polyglucosan bodies, or Lafora bodies, in the peripheral portion of the eccrine sweat gland duct. Exclusive use of the periodic acid-Schiff stain is recommended for demonstrating these diagnostic inclusions. Electron microscopy reveals fine pale-staining filaments, fine dark-staining granules, and dark-rimmed vacuoles within these non-membrane-bound inclusions. Skin biopsy is the preferred method of confirming the diagnosis of Lafora disease.
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PMID:Diagnosis of Lafora disease by skin biopsy. 245 16

Biopsy and autopsy findings in a girl who died at 7 1/2 months after having suffered from progressive axial hypotonia, myoclonus, EEG changes and retarded psychomotor development. Inclusions consisting of lamellar profiles, situated in membrane-bound cytosomes were found mainly in astrocytes, but also in neurones and in axons of peripheral nerves. Lipofuscin bodies were also increased in number. The patient belongs in the same category as cases studied by Towfighi et al. (1975) and Martin et al. (1977). Etiology and pathogenesis of this syndrome remain unknown. It is suggested, however, that the pathological changes observed might have been caused by the administration soon after birth of anti-epileptic drugs (diphenylhydantoin, clonazepam and nitrazepam).
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PMID:Encephalopathy with astrocytic residual bodies. Report of a case and review of the literature. 298 Jan 2

Prion disease are characterized by cerebral deposition of an abnormal protease-resistant isoform of a membrane-bound glycoprotein called prion protein. Sporadic Creutzfeldt-Jakob disease (CJDs) is the most frequent, accounting for approximately 85% of all human prion disease. The identification of a new variant of Creutzfeldt-Jakob disease has reinforced the need for a detailed analysis of phenotypic variability of CJDs. CJDs is typically characterized by rapidly progressive dementia, myoclonus, periodic sharp-wave electroencephalographic activity, and wide-spread spongiform degeneration. However, variations in clinical presentation, disease duration, as well as type and distribution of lesion have been consistently observed. The physicochemical properties of PrPsc in conjunction with the PRNP codon 129 genotype largely determine this phenotypic variability. Continued attention to clinically atypical cases is required to monitor the real incidence of CJDs. To reach this goal neuropathological examination, including the search for PrPsc, and molecular genetic analysis of human prion protein gene (PRNP) should be increasingly applied to atypical neurodegenerative diseases.
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PMID:[Sporadic Creutzfeldt-Jakob disease: phenotypic variability]. 1223 56