Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.

ABSTRACT: The current classification of sporadic Creutzfeldt-Jakob disease (sCJD) includes six major clinicopathological subtypes defined by the physicochemical properties of the protease-resistant core of the pathologic prion protein (PrP^Sc), defining two major PrP^Sc types (i.e., 1 and 2), and the methionine (M)/valine (V) polymorphic codon 129 of the prion protein gene (PRNP). How these sCJD subtypes relate to the well-documented phenotypic heterogeneity of genetic CJD (gCJD) is not fully understood. We analyzed molecular and phenotypic features in 208 individuals affected by gCJD, carrying 17 different mutations, and compared them with those of a large series of sCJD cases. We identified six major groups of gCJD based on the combination PrP^Sc type and codon 129 ge

SUBMITTER: Baiardi S 

PROVIDER: S-EPMC8423680 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature