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

J Neuropathol Exp Neurol. 2008 Sep;67(9):838-41. doi: 10.1097/NEN.0b013e318182f36e.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Brain / pathology*
  • Creutzfeldt-Jakob Syndrome / genetics
  • Creutzfeldt-Jakob Syndrome / pathology*
  • Creutzfeldt-Jakob Syndrome / physiopathology*
  • Female
  • Humans
  • Male
  • Mutation
  • PrPSc Proteins / metabolism
  • Prion Proteins
  • Prions / genetics*
  • Siblings

Substances

  • PRNP protein, human
  • PrPSc Proteins
  • Prion Proteins
  • Prions