Identifying the Genetic Basis of Variably Protease-Sensitive Prionopathy (VPSPr)

Design: Sequencing of cases only

Molecular technologies: Exome sequencing and custom targeted sequencing of PRNP

Aims: Identify modestly penetrant, high odds ratio variants conferring risk of variably protease-sensitive prionopathy (VPSPr)

Population: n=67 autopsy-confirmed VPSPr cases, United States, 1997-2021

Principal findings: Association to PRNP M129V replicated, no other causal variants identified

Data available: Raw sequencing data and metadata

• Type: Case Set
• Archiver: The database of Genotypes and Phenotypes (dbGaP)