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A novel phenotype of sporadic Creutzfeldt-Jakob disease.

Authors
Type
Published Article
Journal
Journal of Neurology Neurosurgery & Psychiatry
1468-330X
Publisher
BMJ
Publication Date
Volume
78
Issue
12
Pages
1379–1382
Identifiers
PMID: 18024694
Source
Medline
License
Unknown

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.

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