Creutzfeldt-Jakob disease (CJD) is the most common form of prion disease in humans. There are three forms: sporadic, in which the origin is unknown, hereditary, due to a mutation in the prion protein gene, and acquired, such as the variant form of Creutzfeldt-Jakob disease linked to the ingestion of bovine derivatives contaminated with an abnormal prion protein.
Diagnosis of Prion Diseases
The diagnosis of Creutzfeldt-Jakob disease can be formally established only after the patients have died, during a post-mortem examination that reveals the brain damage characteristic of the disease. The diagnosis is therefore based first on the clinical signs and after ruling out other pathologies with similar symptoms.
In the case of genetic forms, mutation testing may be performed by blood sampling with the informed consent of the individual. If there is a family history of the disease, prenatal diagnosis is possible.
At Paris Brain Institute
Stéphane Haïk, team leader at Paris Brain Institute and also coordinator of the National Reference Centre for Prion Diseases, is working to develop diagnostic tests to detect Creutzfeldt-Jakob disease. His team has been involved in the development of a biological test that can detect the variant Creutzfeldt-Jakob Disease (vCJD) prion in blood.
