PMCA-Based Detection of Prions in the Olfactory Mucosa of Patients With Sporadic Creutzfeldt-Jakob Disease.

ABSTRACT: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disorder caused by the conformational conversion of the prion protein (PrP^C) into an abnormally folded form, named prion (or PrP^Sc). The combination of the polymorphism at codon 129 of the PrP gene (coding either methionine or valine) with the biochemical feature of the proteinase-K resistant PrP (generating either PrP^Sc type 1 or 2) gives rise to different PrP^Sc strains, which cause variable phenotypes of sCJD. The definitive diagnosis of sCJD and its classification can be achieved only post-mortem after PrP^Sc identification and characterization in the brain. By exploiting the Real-Time Quaking-Induced Conversion (RT-QuIC) assay, traces of PrP^Sc were foun

SUBMITTER: Cazzaniga FA 

PROVIDER: S-EPMC8990253 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature