A novel phenotype of sporadic Creutzfeldt-Jakob disease

G. Giaccone, G. Di Fede, M. Mangieri, L. Limido, R. Capobianco, S. Suardi, M. Grisoli, S. Binelli, P. Fociani, O. Bugiani, F. Tagliavini

Research output: Contribution to journalArticle

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 or 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.

Original languageEnglish
Pages (from-to)1379-1382
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume78
Issue number12
DOIs
Publication statusPublished - Dec 2007

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Phenotype
Creutzfeldt-Jakob Syndrome
Thalamus
Codon
Methionine
Cerebral Cortex
Peptide Hydrolases
Western Blotting
Genes
Sporadic Creutzfeldt-Jakob Disease
Prion Proteins

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

Cite this

A novel phenotype of sporadic Creutzfeldt-Jakob disease. / Giaccone, G.; Di Fede, G.; Mangieri, M.; Limido, L.; Capobianco, R.; Suardi, S.; Grisoli, M.; Binelli, S.; Fociani, P.; Bugiani, O.; Tagliavini, F.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 78, No. 12, 12.2007, p. 1379-1382.

Research output: Contribution to journalArticle

Giaccone, G. ; Di Fede, G. ; Mangieri, M. ; Limido, L. ; Capobianco, R. ; Suardi, S. ; Grisoli, M. ; Binelli, S. ; Fociani, P. ; Bugiani, O. ; Tagliavini, F. / A novel phenotype of sporadic Creutzfeldt-Jakob disease. In: Journal of Neurology, Neurosurgery and Psychiatry. 2007 ; Vol. 78, No. 12. pp. 1379-1382.
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AU - Suardi, S.

AU - Grisoli, M.

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AU - Bugiani, O.

AU - Tagliavini, F.

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