Large-scale validation of skin prion seeding activity as a biomarker for diagnosis of prion diseases.

ABSTRACT: Definitive diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) relies on the examination of brain tissues for the pathological prion protein (PrP^Sc). Our previous study revealed that PrP^Sc-seeding activity (PrP^Sc-SA) is detectable in skin of sCJD patients by an ultrasensitive PrP^Sc seed amplification assay (PrP^Sc-SAA) known as real-time quaking-induced conversion (RT-QuIC). A total of 875 skin samples were collected from 2 cohorts (1 and 2) at autopsy from 2-3 body areas of 339 cases with neuropathologically confirmed prion diseases and non-sCJD controls. The skin samples were analyzed for PrP^Sc-SA by RT-QuIC assay. The results were compared with demographic information, clinical manifestations, cerebrospinal fluid (CSF)

SUBMITTER: Zhang W 

PROVIDER: S-EPMC11812622 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature