Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 30-year-old woman suffered from a progressive extrapyramidal syndrome, myoclonic jerks, spasticity, and organic brain syndrome; she was clinically suspected to suffer from Creutzfeldt-Jakob disease and died after 4 years of illness. At autopsy, widespread dystrophic axons and Lewy bodies (LBs) were found in her brain. Neuronal loss and diffuse reactive astrogliosis involved the gray matter including the cerebral cortex. Dystrophic axons occurred throughout the nervous system except for the cerebellar cortex and peripheral nerves. LBs involved the cerebral cortex as well as subcortical regions including amygdala and claustrum, brainstem including substantia nigra and locus coeruleus, and spinal cord. LBs were distributed extensively enough to be compatible with diffuse Lewy body disease (DLBD). Ubiquitin immunostaining labeled both dystrophic axons and LBs. The combination of neuroaxonal dystrophy and DLBD may result from cytoskeletal pathology which affects both neuronal cell bodies and axons with subsequent deficient proteolysis and ubiquitination.
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PMID:Neuroaxonal dystrophy combined with diffuse Lewy body disease in a young adult. 839 56