A case report of genetic prion disease with two different PRNP variants

Abstract 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 g...

Full description

Bibliographic Details
Main Authors: Megan Piazza, Thomas W. Prior, Prabhjot S. Khalsa, Brian Appleby
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1134