Article
A case report of genetic prion disease with two different PRNP variants.
Molecular genetics & genomic medicine - 1 Mar 2020
Piazza Megan, Prior Thomas W, Khalsa Prabhjot S, Appleby Brian
Abstract excerpt
BACKGROUND: Prion diseases are a group of lethal neurodegenerative conditions that occur when the normal, cellular form of the prion protein (PrPC ) is converted into an abnormal, scrapie, form of the protein (PrPSc ). Disease may be caused by genetic, infectious, or sporadic etiologies. The genetic form of prion disease comprises~10%-15% of all cases. Prion disease is typically inherited in an autosomal dominant...
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