A novel phenotype in familial Creutzfeldt-Jakob disease: Prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease- resistant prion protein

Johannes A. Hainfellner, Piero Parchi, Tetsuyuki Kitamoto, Christa Jarius, Pierluigi Gambetti, Herbert Budka

Research output: Contribution to journalArticle

Abstract

A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon 200 of the prion protein gene (PRNP) coupled with the valine codon 129 (E200K-129V haplotype) has two features never observed in subjects carrying the pathogenic mutation coupled with the methionine codon 129 (E200K-129M haplotype): (1) plaque-like prion protein (PrP) deposits in the cerebellum and (2) type 2 protease-resistant prion protein (PrP(res)). This observation further underlines the role of codon 129 on the mutated PRNP allele in modulating the phenotype of familial prion diseases.

Original languageEnglish
Pages (from-to)812-816
Number of pages5
JournalAnnals of Neurology
Volume45
Issue number6
DOIs
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Neuroscience(all)

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