Prion diseases are a group of rare diseases that lead to fatal degeneration of the central nervous system, caused by pathological aggregation of the prion protein. In France, between 100 and 150 cases are diagnosed each year. Creutzfeldt-Jakob disease (CJD) is the most common form of prion disease in humans, accounting for 85% of diagnosed cases. There are currently no treatments for these diseases.
Biological mechanisms and causes of prion diseases
Prion diseases are neurodegenerative diseases in which a malformed protein accumulates in neurons and causes them to die. The characteristic feature of prion protein conditions is that they cause conformational changes to surrounding prion proteins. They then spread from one neuron to another.
Prion disease symptoms and diagnosis
Symptoms of prion diseases such as Creutzfeldt-Jakob disease include dementia and various neurological disorders such as impaired vision, movement and balance.
There are three forms of Creutzfeldt-Jakob disease (CJD): sporadic, in which the origin is unknown; hereditary, caused by a mutation in the prion protein gene; and acquired, such as the variant form of CJD linked to the ingestion of bovine by-products contaminated with an abnormal prion protein.
It is only possible to make a formal diagnosis of Creutzfeldt-Jakob disease after a patient has died, by examining the characteristics of brain lesions. The diagnosis can therefore only be made on the basis of the patient’s clinical signs. In genetic forms of the disease, blood samples can be taken to search for mutations.
Treatments for prion diseases
There are no treatments for prion diseases. Symptomatic treatments may be offered. Medical, psychological and social care is essential.
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