[exhilaration]

Can anyone explain what a "genetically transmitted neurodegenerative prion disease" is? I thought prions were misfolded proteins found in the wild that had to be ingested in order to cause disease. How can they be genetically transmitted?

[hacoo]

Definitely not an expert, but I think it means you have a gene which causes eventual production of a prion. I.e., you produce proteins which have the potential to misfold; eventually this happens and prion disease begins.

[bookofjoe]

I'm a physician, and I have exactly the same thought.

[milesdyson_phd]

It's not a prion per se, but it's a genetic mutation affecting PRNP (prion protein).

[bookofjoe]

Excellent. Thank you.