title: A novel phenotype of sporadic Creutzfeldt-Jakob disease.
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 (PrP(Sc)) previously unrecognised in sporadic CJD, marked by the absence of diglycosylated protease resistant species. These features define a novel neuropathological and molecular CJD phenotype.
authors.affiliation: Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, Milan, 20133, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Giaccone
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Di Fede
authors.forename: Michela
authors.initials: M
authors.lastname: Mangieri
authors.forename: Lucia
authors.initials: L
authors.lastname: Limido
authors.forename: Raffaella
authors.initials: R
authors.lastname: Capobianco
authors.forename: Silvia
authors.initials: S
authors.lastname: Suardi
authors.forename: Marina
authors.initials: M
authors.lastname: Grisoli
authors.forename: Simona
authors.initials: S
authors.lastname: Binelli
authors.forename: Paolo
authors.initials: P
authors.lastname: Fociani
authors.forename: Orso
authors.initials: O
authors.lastname: Bugiani
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Tagliavini