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A novel phenotype of sporadic Creutzfeldt–Jakob disease
  1. G Giaccone1,
  2. G Di Fede1,
  3. M Mangieri1,
  4. L Limido1,
  5. R Capobianco1,
  6. S Suardi1,
  7. M Grisoli1,
  8. S Binelli1,
  9. P Fociani2,
  10. O Bugiani1,
  11. F Tagliavini1
  1. 1
    Istituto Nazionale Neurologico Carlo Besta, Milano, Italy
  2. 2
    Universitè di Milano, Ospedale Luigi Sacco, Milano, Italy
  1. Dr G Giaccone, Istituto Nazionale Neurologico Carlo Besta, via Celoria 11, Milano 20133, Italy; giaccone{at}istituto-besta.it

Abstract

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.

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Footnotes

  • Competing interests: None.

  • Abbreviations:
    PRNP
    prion protein gene
    PrP
    prion protein
    sCJD
    sporadic Creutzfeldt–Jakob disease

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