A novel phenotype of sporadic Creutzfeldt-Jakob disease

G. Giaccone, Giuseppe Di Fede, Michela Mangieri, Lucia Limido, Raffaella Capobianco, Silvia Suardi, Marina Grisoli, Simona Binelli, Paolo Fociani, Orso Bugiani, Fabrizio Tagliavini

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
JournalBMJ Case Reports
Publication statusPublished - Feb 2 2009

ASJC Scopus subject areas

  • Medicine(all)


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