A novel phenotype of sporadic Creutzfeldt-Jakob disease.
BMJ Case Rep
; 20092009.
Article
en En
| MEDLINE
| ID: mdl-21686549
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
BMJ Case Rep
Año:
2009
Tipo del documento:
Article
País de afiliación:
Italia