A novel phenotype of sporadic Creutzfeldt–Jakob disease. Issue 12 (16th November 2007)

• Record Type: Journal Article
• Authors: Giaccone, G; Di Fede, G; Mangieri, M; Limido, L; Capobianco, R; Suardi, S; Grisoli, M; Binelli, S; Fociani, P; Bugiani, O; Tagliavini, F
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 78:Issue 12(2007)
• Page Start: 1379
• Page End: 1382
• Publication Date: 2007-11-16
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2007.115444
• Languages: English
• ISSNs: 0022-3050

Abstract

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.