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[Creutzfeld-Jakob disease]
P Giraud1, A Alpérovitch, G Chazot
1Service de neurologie, hôpital neurologique et neuro-chirurgical Pierre Wertheimer 69394 Lyon.
Abstract:
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.
Insights
Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disorder with four main types: familial, iatrogenic, sporadic, and a new variant linked to bovine spongiform encephalopathy. Diagnosis requires histological confirmation.
Area of Science:
- Neurology
- Pathology
- Genetics
Context:
- Creutzfeldt-Jakob disease (CJD) was first described in Germany in the 1920s.
- It is a rare, fatal prion disease affecting the brain.
Purpose:
- To outline the distinct entities of Creutzfeldt-Jakob disease.
- To describe the clinical presentation and diagnostic criteria for CJD.
Summary:
- CJD presents in four forms: familial (8%), iatrogenic (5%), sporadic (87%), and a rare new variant linked to bovine spongiform encephalopathy.
- Key clinical signs include rapidly progressing dementia, myoclonus, ataxia, and characteristic electroencephalographic abnormalities.
- Definitive diagnosis of Creutzfeldt-Jakob disease is established through histological examination.
Impact:
- Enhances understanding of CJD's diverse etiology and presentation.
- Highlights the invariably fatal nature and rapid progression of the disease.
- Emphasizes the importance of histological confirmation for accurate diagnosis.