Article
Novel histotypes of sporadic Creutzfeldt-Jakob disease linked to 129MV genotype.
Acta neuropathologica communications - 31 Aug 2023
Cracco Laura, Puoti Gianfranco, Cornacchia Antonio, Glisic Katie, Lee Seong-Ki, Wang Zerui, Cohen Mark L, Appleby Brian S, Cali Ignazio
Abstract excerpt
The MV1 and MV2 subtypes of sporadic Creutzfeldt-Jakob disease (sCJD) are linked to the heterozygous methionine (M)/valine (V) polymorphism at codon 129 of the prion protein (PrP) gene. MV2 is phenotypically heterogeneous, whereas MV1, due to its low prevalence, is one of the least well characterized subtypes. In this study, we investigated the biochemical properties of PrPSc and phenotypic expression of cases...
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