[Creutzfeld-Jakob disease].
Described in the early 1920s in Germany, Creutzfeldt-Jakob disease now comprises 4 entities: 1. familial forms are linked to mutations of the gene coding for prion protein (about 8% of the cases); 2. iatrogenic forms are due to interventions using contaminated material or human extracts (about 5% of the cases); 3. sporadic forms represent the majority of the cases (about 87%) without any established explanation; 4. recently described new variant, related to bovine spongiform encephalopathy, remains quite rare (41 known cases). In all its forms, the disease is constantly mortal after a usually short course. Major signs are rapidly evolving; dementia with myoclonus, ataxia, and electroencephalographic abnormalities (periodic activity). Formal diagnosis is histologic.
Giraud
P
P
Service de neurologie, hôpital neurologique et neuro-chirurgical Pierre Wertheimer 69394 Lyon.
Alpérovitch
A
A
Chazot
G
G
D000818:Animals; D001259:Ataxia / Q000209:etiology; D002417:Cattle; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis / Q000473:pathology* / Q000635:transmission; D003704:Dementia / Q000209:etiology*; D003937:Diagnosis, Differential; D004569:Electroencephalography; D016643:Encephalopathy, Bovine Spongiform / Q000635:transmission*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007049:Iatrogenic Disease; D009207:Myoclonus / Q000209:etiology; D012756:Sheep