Publications by authors named "Jean-Phillipe Brandel"
Article Synopsis
- Human prion diseases are unusual brain illnesses that can spread and cause quick changes in memory and thinking.
- The study looked at a specific type called sporadic Creutzfeldt-Jakob disease (sCJD), examining data from over 3,700 cases to understand how long the disease lasts and at what age it starts.
- Researchers found important genetic clues on chromosome 20 that can help understand how long people live with this disease, especially one specific genetic change that seems to have a big effect on survival time.
Background: Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the PRNP gene that encodes prion protein are strong risk factors for sCJD but, although the condition has similar heritability to other neurodegenerative disorders, no other genetic risk loci have been confirmed. We aimed to discover new genetic risk factors for sCJD, and their causal mechanisms.
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