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)

A case of Creutzfeldt-Jakob disease (CJD) in a 32 year old man is presented. The clinical picture included a rapid progressive dementia associated with ataxia, global aphasia, myoclonus and pyramidal signs, death occurred after 13 months. The diagnosis of CJD was confirmed by CT and neuropathological studies. This is the first report of CJD occurring in Venezuela.
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PMID:Creutzfeldt-Jakob disease in Venezuela. A case report. 181 Feb 44

A case of Creutzfeldt-Jakob disease (CJD) in a 76 year-old man is presented. The clinical picture included a rapid progressive dementia associated with ataxia, global aphasia, myoclonus and pyramidal signs; death occurred after about 4 months. There was an antecedent of chemical trauma caused by plant liquid on right eye 12 to 18 months before. The electroencephalogram showed diffuse slow activity and the neuropathological findings were typical. The detection of a protein called "prion" or PrP27-30 in the scrapie and the finding that some proteins isolated from brain of patients with CJD have reacted with antibodies raised against it have improved the knowledge about the infectious agent. The recent reports of young patients with CJD after human growth hormone therapy prepared from pools of pituitary glands obtained at autopsy are alarming and probably new cases will be described.
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PMID:[Creutzfeldt-Jakob disease: report of a case]. 330 Jun 14

The usual clinical profile of Creutzfeldt-Jakob disease (CJD) is that of subacute dementia and intractable myoclonus. Occasionally, some cases present peculiar clinical features. We report on a case of CJD with an unilateral onset showing remarkable neuroimaging features. The patient, aged 72 years, began to suffer from sudden anomia, initially restricted to persons; but in a few weeks it evolved into a global aphasia, right hemiparesis, severe gait disorder, and finally akinetic mutism and intractable myoclonus. He died 11 weeks after onset. Early in the course, an analysis of 14-3-3 protein in CSF was positive. In advanced disease, the EEG showed the typical periodic activity of CJD. FLAIR MRI study showed a mesencephalic and focal cortical hyperintensity. Autopsy was performed and confirmed the diagnosis of CJD with an extensive presence of generalised spongiosis in cerebral grey matter. This case illustrates the usefulness of the life recent paraclinical methods to diagnose CJD in life. New MRI techniques seems to be particularly relevant, as they are not limited to exclude other conditions but can also offer data with validity to a positive diagnosis, like grey matter hyperintensity, that in this case was present also in the midbrain.
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PMID:[Creutzfeldt-Jakob disease with unilateral onset: clinical profile and neuroimaging]. 1173 17

We report a 59-year-old woman who presented to our facility with conduction aphasia as an initial symptom which, within 3months, was followed by generalized myoclonus and global aphasia. She had difficulty repeating words during the Korean-Western Aphasia Battery test. Diffusion-weighted MRI demonstrated ribbon-like hyperintensities in the bilateral temporal, parietal and occipital cerebral cortex. An electroencephalogram showed periodic discharges over the bilateral hemispheres, while single photo emission CT revealed diminished perfusion. After a positive finding of the 14-3-3 protein in her cerebrospinal fluid, she was diagnosed as having probable sporadic Creutzfeldt-Jakob disease.
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PMID:Conduction aphasia as an initial symptom in a patient with Creutzfeldt-Jakob disease. 2061 59