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 (PrP^C ) is converted into an abnormal, scrapie, form of the protein (PrP^Sc ). 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 manner. The low incidence of disease makes it highly unlikely that a patient would have two different pathogenic variants. However, we recently identified a case in which the patient did have two pathogenic PRNP variants and presented with an atypical phenotype.

Methods

The patient was evaluated at the Washington Hospital Healthcare System in Fr

SUBMITTER: Piazza M 

PROVIDER: S-EPMC7057106 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature