A novel phenotype of sporadic Creutzfeldt–Jakob disease

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 th...

Full description

Saved in:
Bibliographic Details
Published inBMJ case reports Vol. 2009; no. jan27 1; p. bcr0920080945
Main Authors Giaccone, G, Di Fede, Giuseppe, Mangieri, Michela, Limido, Lucia, Capobianco, Raffaella, Suardi, Silvia, Grisoli, Marina, Binelli, Simona, Fociani, Paolo, Bugiani, Orso, Tagliavini, Fabrizio
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group LTD 2009
BMJ Publishing Group
SeriesRare disease
Subjects
Antibodies
Atrophy
Creutzfeldt-Jakob disease
Europe (West)
Female
Mutation
Neuropathology
Proteins
Rare Disease
White
United States > US
Online AccessGet full text

Cover

More Information
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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr.09.2008.0945