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)

Thirty cases of diffuse Lewy body disease (DLBD) have been reported, primarily by neuropathologists, but an associated clinical syndrome has not been clearly defined. Four recent cases have led us to examine the clinicopathologic correlations. Patients are usually elderly, with symptoms lasting from 1 to 20 years. Progressive dementia or psychosis is typically the first and most prominent feature. Parkinsonian signs, initially mild or absent, become common eventually, and rigidity is usually severe. Involuntary movements, myoclonus, quadriparesis in flexion, orthostatic hypotension, and dysphagia have also been noted. Classic, concentric Lewy bodies are found profusely in the brainstem, basal forebrain, and hypothalamic nuclei, while less well defined "Lewy-like" bodies occur in limbic structures and in deep neocortical layers. In addition, focal spongiform changes in the mesial temporal lobe were found in two of our cases. We suggest that DLBD may be another specific cause of progressive dementia.
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PMID:Diffuse Lewy body disease and progressive dementia. 284 93

Eight cases of rare genetic Creutzfeldt-Jakob disease (gCJD) with a mutation T188K in PRNP have been identified and diagnosed genetically in China since 2006. Among the eight cases, the median age of disease onset was 58years old (ranging from 39 to 76years old). Progressive dementia and pyramidal or extrapyramidal dysfunction appeared in all cases and lasted during the entire clinical course. Myoclonus and visual or cerebellar disturbances were also frequently observed. The median duration of disease was 3months. Cerebral MRI findings revealed high caudate and putamen signals in four out of eight cases. CSF in six out of eight patients tested positive for the 14-3-3 protein. Only one case showed periodic sharp-waves (PSW) in EEG. Most cases lacked a family history of associated diseases, though one patient's mother died of a neurologic disorder without a definite diagnosis. Our data reveal that Chinese T188K gCJD cases have clinical characteristics similar to that of sporadic CJD (sCJD). Compared with other inherited prion disease-associated mutations in China, the genetic frequencies of T188K in PRNP of Han-Chinese are relatively high.
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PMID:Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease. 2326 45