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Creutzfeldt Jacob Disease

^ http://www.ebi.ac.uk/efo/EFO_0004226


A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27)).

Synonyms: Creutzfeldt-Jakob Disease, Familial, Spongiform Encephalopathy, Subacute, Creutzfeldt-Jakob Syndrome, CJD, Familial Creutzfeldt-Jakob Disease, Creutzfeldt-Jakob Disease

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