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BMJ Case Reports 2009; doi:10.1136/bcr.09.2008.0945
  • Rare disease

A novel phenotype of sporadic Creutzfeldt–Jakob disease

  1. G Giaccone1,
  2. Giuseppe Di Fede1,
  3. Michela Mangieri1,
  4. Lucia Limido1,
  5. Raffaella Capobianco1,
  6. Silvia Suardi1,
  7. Marina Grisoli1,
  8. Simona Binelli1,
  9. Paolo Fociani2,
  10. Orso Bugiani1,
  11. Fabrizio Tagliavini1
  1. 1
    Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, Milan, 20133, Italy
  2. 2
    Università di Milano, Ospedale Luigi Sacco, via Grassi 74, Milano, 20157, Italy
  1. giaccone{at}istituto-besta.it
  • Published 2 February 2009

Summary

An atypical case of sporadic Creutzfeldt–Jakob disease (CJD) is described in a 78-year-old woman homozygous for methionine at codon 129 of the prion protein (PrP) gene. The neuropathological signature was the presence of PrP immunoreactive plaque-like deposits in the cerebral cortex, striatum and thalamus. Western blot analysis showed a profile of the pathological form of PrP (PrPSc) previously unrecognised in sporadic CJD, marked by the absence of diglycosylated protease resistant species. These features define a novel neuropathological and molecular CJD phenotype.

Footnotes

  • Competing interests: None.

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