Rare disease
A novel phenotype of sporadic Creutzfeldt–Jakob disease
1 Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, Milan, 20133, Italy
2 Università di Milano, Ospedale Luigi Sacco, via Grassi 74, Milano, 20157, Italy
Correspondence to:
giaccone{at}istituto-besta.it
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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