A novel subtype of sporadic Creutzfeldt-Jakob disease with PRNP codon 129MM genotype and PrP plaques.

ABSTRACT: The presence of amyloid kuru plaques is a pathological hallmark of sporadic Creutzfeldt-Jakob disease (sCJD) of the MV2K subtype. Recently, PrP plaques (p) have been described in the white matter of a small group of CJD (p-CJD) cases with the 129MM genotype and carrying resPrP^D type 1 (T1). Despite the different histopathological phenotype, the gel mobility and molecular features of p-CJD resPrP^D T1 mimic those of sCJDMM1, the most common human prion disease. Here, we describe the clinical features, histopathology, and molecular properties of two distinct PrP plaque phenotypes affecting the gray matter (p^GM) or the white matter (p^WM) of sCJD cases with the PrP 129MM genotype (sCJDMM). Prevalence of p^GM- and p^WM-CJD proved co

SUBMITTER: Bayazid R 

PROVIDER: S-EPMC10166463 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature