Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene

S. Capellari, P. Parchi, B. D. Wolff, J. Campbell, R. Atkinson, D. M. Posey, R. B. Petersen, P. Gambetti

Research output: Contribution to journalArticlepeer-review

Abstract

A two-octapeptide repeat deletion of the prion protein gene has been recently observed in a patient with a 2-year history of dementia and a clinical diagnosis of possible Creutzfeldt-Jakob disease (CJD). The authors report a similar deletion in a patient with a definitive diagnosis of CJD. Since the two-repeat deletion has not been observed in large, population-based studies, the two cases suggest that this deletion is a new pathogenic mutation associated with CJD.

Original languageEnglish
Pages (from-to)1628-1630
Number of pages3
JournalNeurology
Volume59
Issue number10
Publication statusPublished - Nov 26 2002

ASJC Scopus subject areas

  • Neuroscience(all)

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