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

ConclusionThis presentation is reminiscent of prion protein knockout mice whose predominate symptom, due to complete loss of PrP, was late ‐onset peripheral neuropathy. To our knowledge this is the first case reported of a patient with prion disease who had two different pathogenic variants inPRNP.

Source: Molecular Genetics & Genomic Medicine - January 16, 2020 Category: Genetics & Stem Cells Authors: Megan Piazza, Thomas W. Prior, Prabhjot S. Khalsa, Brian Appleby Tags: ORIGINAL ARTICLE Source Type: research