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)

Thyrotropin-releasing hormone (TRH) is sometimes used for the treatment of neurologic disorders such as intractable epilepsy and spinocerebellar degeneration. A 14-year-old girl with progressive myoclonus epilepsy was treated with intravenous TRH for 12 months. Clinical symptoms, such as cortical myoclonus and cerebellar signs, were improved, and P25-N33 amplitudes of somatosensory-evoked potentials decreased after TRH therapy. P100 amplitudes on flash visual-evoked potentials and photosensitivity on electroencephalograms also decreased but only temporarily. Changes in neurophysiologic findings after TRH therapy indicate that TRH inhibits hyperexcitability in the sensorimotor cortex and the visual cortex. Therefore, intravenous TRH therapy is recommended as an alternative therapy in the treatment of progressive myoclonus epilepsy.
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PMID:Successful treatment of progressive myoclonus epilepsy with TRH. 965 Jun 89

In a 64-year old woman with progressive visual impairment for 4 weeks, probable Creutzfeld-Jakob disease without myoclonus was diagnosed after rapidly progressive mental deterioration had also developed, and CSF and EEG showed characteristic findings. Pattern-reversal and flash visually-evoked potentials, recorded 5, 6, 7 and 8 weeks after onset, showed a maximum P100 latency of 210 ms, 8 weeks after onset, and a maximum N75/P100 amplitude of 33.1 microV, 5 weeks after onset. While the P100 latency progressively increased, the N75/P100 amplitude continuously decreased after reaching its maximum. In the Heidenhain type of Creutzfeld-Jakob disease giant visually-evoked potentials may be recorded during the early stages of the disease, even in the absence of myoclonus. Visually-evoked potentials may prove useful in diagnosing Creutzfeld-Jakob disease with atypical initial presentation.
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PMID:Giant visually-evoked potentials without myoclonus in the Heidenhain type of Creutzfeld-Jakob disease. 1050 Feb 66

Creutzfeldt-Jakob disease (CJD) is characterized by rapidly progressive dementia with a variety of neurological disorders and a fatal outcome. The authors present a case with visual disturbance as a leading symptom and rapid deterioration in global cognitive functions. The cerebrospinal fluid was positive for 14-3-3 protein, and diffusion-weighted magnetic resonance imaging (MRI) showed marked hyperintensity in the parieto-occipital cortices, where hypometabolism was clearly detected on positron emission tomography (PET). Pattern-reversal visual evoked potentials showed prolonged P100 latencies and increased N/5/P100 amplitudes. All these findings supported a diagnosis of the Heidenhain variant of CJD, whereas a long clinical course, a lack of myoclonus, and an absence of periodic synchronous discharges on electroencephalography were atypical. Diffusion-weighted MRI and PE1 in combination with visual evoked potential recording and 14-3-3 protein detection may be useful for the early diagnosis of CJD.
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PMID:Heidenhain variant of Creutzfeldt-Jakob disease: diffusion-weighted MRI and PET characteristics. 1474 11