Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene

Vladimiro Pietrini, G. Puoti, L. Limido, G. Rossi, G. Di Fede, G. Giaccone, M. Mangieri, F. Tedeschi, A. Bondavalli, D. Mancia, O. Bugiani, F. Tagliavini

Research output: Contribution to journalArticlepeer-review

Abstract

The authors investigated two unrelated patients with Creutzfeldt-Jakob disease (CJD) with clinical features of sporadic CJD (sCJD) carrying one extra octapeptide repeat in the prion protein (PrP) gene (PRNP). A synaptic type PrP distribution throughout the cerebral gray matter and plaque-like PrP deposits in the subcortical gray structures were detected immunocytochemically. The different patterns of PrP deposition were associated with distinct types of protease-resistant PrP, similar to type 1 and type 2 of sCJD. The features suggest that this insertion is a pathogenic mutation.

Original languageEnglish
Pages (from-to)1288-1291
Number of pages4
JournalNeurology
Volume61
Issue number9
Publication statusPublished - Nov 11 2003

ASJC Scopus subject areas

  • Neuroscience(all)

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