First report of Creutzfeldt-Jakob disease occurring in 2 siblings unexplained by PRNP mutation

Thomas E F Webb, Suvankar Pal, Durrenajaf Siddique, Dominic C Heaney, Jacqueline M Linehan, Jonathan D F Wadsworth, Susan Joiner, Jon Beck, Stephen J Wroe, Valerie Stevenson, Sebastian Brandner, Simon Mead, John Collinge

Research output: Contribution to journalArticlepeer-review

Abstract

Sibling concurrence of pathologically confirmed prion disease has only been reported in association with pathogenic mutation of the prion protein gene (PRNP). Here, we report 2 siblings with classic neuropathologic features of sporadic Creutzfeldt-Jakob disease unexplained by PRNP mutation or known risk factors for iatrogenic transmission of prion infection. Possible explanations include coincidental occurrence, common exposure to an unidentified environmental source of prions, horizontal transmission of disease, or the presence of unknown shared genetic predisposition.

Original languageEnglish
Pages (from-to)838-41
Number of pages4
JournalJournal of Neuropathology and Experimental Neurology
Volume67
Issue number9
DOIs
Publication statusPublished - Sep 2008

Keywords

  • Aged
  • Aged, 80 and over
  • Brain
  • Creutzfeldt-Jakob Syndrome
  • Female
  • Humans
  • Male
  • Mutation
  • PrPSc Proteins
  • Prions
  • Siblings

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