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Article

Understanding the Phenotypic Heterogeneity Within the Sporadic Creutzfeldt-Jakob Disease MV1 Subtype.

Neuropathology and applied neurobiology - 1 Jun 2026

Nemani Satish K, Cortez Leonardo M, Myskiw Jennifer, Cali Ignazio, Booth Stephanie A, Jansen Gerard H, Sim Valerie L

Abstract excerpt

The MV1 subtype of sporadic Creutzfeldt-Jakob disease (sCJD) is one of the least studied. Cases are defined by the presence of the methionine/valine (MV) polymorphism at codon 129 of the PRNP gene and a type 1 immunoblot pattern of pathological prion protein (PrPD), where the unglycosylated PrPD fragment migrates at ~21 kDa (T21). Because the originally described MV1 cases had T21 plus brain pathology...

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PMID: 42083984
DOI: 10.1111/nan.70078
PMCID: PMC13140124

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PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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