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 describe a case of idiopathic palatal myoclonus with normal CT and NMR results, especially of the region of the inferior olive. The effective treatment with sodium valproate is reported and its relation with GABA is discussed.
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PMID:A case of idiopathic palatal myoclonus: treatment with sodium valproate. 175 67

An autopsy case of a 66 year-old woman is reported. She developed personality change and psychotic symptoms at the age of 58. She began to show gait disturbance and forgetfullness at the age of 60. She was admitted to Okayama University Hospital at the age of 61, when she showed personality change, dementia, cerebellar sings and chorea like involuntary movement. The illness progressed slowly and she died of septicemia at the age of 66. At autopsy brain weighed 990 g. Macroscopically, the atrophy of the brain stem was severe, and the cerebellum was slightly atrophic. Microscopically, the globus pallidus was almost intact, but the degeneration involved dentate nuclei, their projections, red nucleus and the subthalamic nuclei, so this case was considered to be a case of pseudo-Huntington form of dentatorubropallidoluysian atrophy, proposed by Hirayama. The most striking feature of this case was marked atrophy of the brain stem and her intense familial history. Investigation of her familial history revealed that there were 18 affected cases in 5 successive generations. Their onset of the disease varied from the age of 10 to 60 years old. Cases of juvenile onset showed myoclonus and convulsion as the initial symptoms, and convulsion as the initial symptoms, and those of presenile onset showed dementia, cerebellar ataxia and chorea like involuntary movement. And in some of these cases it was proved by NMR-CT that their brain stem were small. We discussed the meaning of the atrophy of the brain stem in these cases and the difference of the symptoms between the cases of juvenile onset and the cases of presenile onset.
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PMID:[An autopsy case of dentatorubropallidoluysian atrophy showing marked atrophy of the brain stem]. 296 93

Magnetic resonance images that were sensitized to changes in cerebral blood oxygenation state demonstrated dysfunctional activation of the dentate nuclei, the left inferior olivary nucleus and the left red nucleus in a 56-year-old patient with palatal myoclonus. These findings represent the first demonstration of movement-related activation of cerebellar, brainstem and midbrain nuclei in a single subject and at a spatial resolution comparable to that of anatomic MR images.
NMR Biomed 1994 Nov
PMID:Dysfunctional activation of subcortical nuclei in palatal myoclonus detected by high-resolution MRI. 771 33

Hydromorphone-3-glucuronide (H3G) was synthesized biochemically using rat liver microsomes, uridine-5'-diphosphoglucuronic acid (UDPGA) and the substrate, hydromorphone. Initially, the crude putative H3G product was purified by ethyl acetate precipitation and washing with acetonitrile. Final purification was achieved using semi-preparative high-performance-liquid-chromatography (HPLC) with ultraviolet (UV) detection. The purity of the final H3G product was shown by HPLC with electrochemical and ultraviolet detection to be > 99.9% and it was produced in a yield of = 60% (on a molar basis). The chemical structure of the putative H3G was confirmed by enzymatic hydrolysis of the glucuronide moiety using beta-glucuronidase, producing a hydrolysis product with the same HPLC retention time as the hydromorphone reference standard. Using HPLC with tandem mass spectrometry (HPLC-MS-MS) in the positive ionization mode, the molecular mass (M+1) was found to be 462 g/mol, in agreement with H3G's expected molecular weight of 461 g/mol. Importantly, proton-NMR indicated that the glucuronide moiety was attached at the 3-phenolic position of hydromorphone. A preliminary evaluation of H3G's intrinsic pharmacological effects revealed that following i.c.v. administration to adult male Sprague-Dawley rats in a dose of 5 microg, H3G evoked a range of excitatory behavioural effects including chewing, rearing, myoclonus, ataxia and tonic-clonic convulsions, in a manner similar to that reported previously for the glucuronide metabolites of morphine, morphine-3-glucuronide and normorphine-3-glucuronide.
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PMID:Hydromorphone-3-glucuronide: biochemical synthesis and preliminary pharmacological evaluation. 971 27