Article
Defining the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease MV2K: the kuru plaque type.
Brain : a journal of neurology - 1 Aug 2023
Baiardi Simone, Mammana Angela, Dellavalle Sofia, Rossi Marcello, Redaelli Veronica, Colaizzo Elisa, Di Fede Giuseppe, Ladogana Anna, Capellari Sabina, Parchi Piero
Abstract excerpt
The current classification of sporadic Creutzfeldt-Jakob disease identifies six major subtypes mainly defined by the combination of the genotype at polymorphic codon 129 (methionine/M or valine/V) of the prion protein gene and the type (1 or 2) of misfolded prion protein accumulating in the brain (e.g. MM1, MM2, MV1, MV2, etc.). Here, we systematically characterized the clinical and histo-molecular features...
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