Mok T et al. 2017, Variant Creutzfeldt-Jakob disease in a patient with heterozygosity at PRNP codon 129 (N Engl J Med 376(3):292-294, PMID 28099827, doi 10.1056/NEJMc1610003)

This is a short Correspondence in the New England Journal of Medicine by Mok and 12 co-authors, with John Collinge as last author, indexed as Letter and Case Reports. Later literature cites it as the first clinical variant CJD (vCJD) report in a person with the methionine/valine (MV) genotype at PRNP codon 129, when all earlier genotyped cases had been methionine/methionine (MM). Its importance is for expectations about the tail of the UK vCJD epidemic. Read depth: PubMed, Europe PMC and Crossref records plus secondary accounts only; the letter has no abstract and its full text is paywalled and was not opened. Nothing about the individual case is described here. Information only, not medical advice.

Key facts

  • The citation is verified: N Engl J Med 2017;376(3):292-294, DOI 10.1056/NEJMc1610003, PMID 28099827, 13 authors, first author Tzehow Mok.
  • PubMed and Europe PMC classify it as a Letter and Case Reports, and neither holds an abstract.
  • The listed funding is from UK Medical Research Council grants. The author list includes Collinge and Mead; their unit affiliations were not read in the records.
  • A public expert briefing on 18 January 2017 framed it as the first documented vCJD case with an MV genotype, with all earlier definite cases MM.
  • Experts quoted in that briefing mostly called the finding expected, since codon 129 genotype affects susceptibility and incubation time, and did not take it as proof of a new wave; these are opinions.
  • One quoted expert gave UK population genotype frequencies of about 42 percent MM, 46 percent MV and 12 percent VV, so MV carriers form a large share of the population.
  • A 2019 Brain paper reports that every definite or probable vCJD case with genotype data up to 2016 was MM, cites this letter as evidence that non-MM genotypes can be susceptible, and notes the possibility of a second wave in MV carriers.
  • The same 2019 paper reports 178 UK vCJD deaths from 1995 to 2018, peaking around 2000, and a UK appendix survey with 7 positives in 15,939 samples (about 1 in 2,000), covering all three codon 129 genotypes.

Timeline

  1. 2017DOI record created and embargo lifted; expert reactions published the same day.
  2. 2017Letter appears in the print issue, vol 376 no 3.
  3. 2019Diack et al. in Brain cite the report in an analysis of vCJD strain across codon 129 genotypes.
  4. 2019A comment letter on the report appears in Eur J Anaesthesiol (PMID 31365421), per PubMed's linked-comments list; not opened.

People

Last checked 1 November 2026

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