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Article

Search for a genetic cause of variably protease-sensitive prionopathy.

PLoS pathogens - 1 Aug 2025

Lian Yuan, Kotobelli Keisi, Hall Stacey, Talkowski Michael E, O'Donnell-Luria Anne, Vallabh Sonia Minikel, Appleby Brian S, Minikel Eric Vallabh

Abstract excerpt

Variably protease-sensitive prionopathy (VPSPr) is a rare, atypical subtype of prion disease currently classified as sporadic. We performed exome sequencing and targeted sequencing of PRNP non-coding regions on genomic DNA from autopsy-confirmed VPSPr patients (N = 67) in order to search for a possible genetic cause. Our search identified no potentially causal variants for VPSPr. The common polymorphism PRNP...

Read the complete abstract on PubMed

Topics

Humans
Prion Diseases
Genetic Predisposition to Disease
Prion Proteins
Male
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Aged

Linkage Disequilibrium

Source

Open in PubMed Open full text

Identifiers

PMID: 40749074
DOI: 10.1371/journal.ppat.1013343
PMCID: PMC12327619

Genes

PRNP

Variants

Provenance

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