Transmission characteristics of heterozygous cases of Creutzfeldt-Jakob disease with variable abnormal prion protein allotypes.

ABSTRACT: In the human prion disease Creutzfeldt-Jakob disease (CJD), different CJD neuropathological subtypes are defined by the presence in normal prion protein (PrP^C) of a methionine or valine at residue 129, by the molecular mass of the infectious prion protein PrP^Sc, by the pattern of PrP^Sc deposition, and by the distribution of spongiform change in the brain. Heterozygous cases of CJD potentially add another layer of complexity to defining CJD subtypes since PrP^Sc can have either a methionine (PrP^Sc-M129) or valine (PrP^Sc-V129) at residue 129. We have recently demonstrated that the relative amount of PrP^Sc-M129 versus PrP^Sc-V129, i.e. the PrP^Sc allotype ratio, varies between heterozygous CJD case

SUBMITTER: Ward A 

PROVIDER: S-EPMC7285538 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature