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Creutzfeldt-Jakob disease, prion protein gene codon 129VV, and a novel PrPSc type in a young British woman.

Archives of neurology - 1 Dec 2007

Mead Simon, Joiner Susan, Desbruslais Melanie, Beck Jonathan A, O'Donoghue Michael, Lantos Peter, Wadsworth Jonathan D F, Collinge John

Abstract excerpt

BACKGROUND: Variant Creutzfeldt-Jakob disease (vCJD) is an acquired prion disease causally related to bovine spongiform encephalopathy that has occurred predominantly in young adults. All clinical cases studied have been methionine homozygotes at codon 129 of the prion protein gene (PRNP) with distinctive neuropathological findings and molecular strain type (PrP(Sc) type 4). Modeling studies in transgenic mice...

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Identifiers

PMID: 18071044
DOI: 10.1001/archneur.64.12.1780

Genes

PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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