How are prion diseases diagnosed?

Creutzfeldt-Jakob disease (CJD) is the most common form of prion disease in humans. There are 3 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 by-products contaminated with an abnormal prion protein.
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How is prion disease diagnosed?

The diagnosis of Creutzfeldt-Jakob disease can only be formally established after the death of the patient, during the post-mortem examination which reveals the characteristic cerebral lesions of the disease. Diagnosis is therefore based primarily on clinical signs, after ruling out other diseases with similar symptoms.


In the case of genetic forms of the disease, blood samples can be taken to test for mutations, with the patient’s informed consent. Where there is a family history of the disease, prenatal diagnosis is possible.


Research at the Paris Brain Institute

Stéphane Haïk, team leader at the Institut du Cerveau and also coordinator of the Centre national de référence des maladies à prions, is working to develop diagnostic tests to detect Creutzfeldt-Jakob disease. His team has been involved in developing a biological test capable of detecting the prion responsible for variant Creutzfeldt-Jakob disease (vCJD) in blood.


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