title: 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.
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.
authors.affiliation: Institute of Neurology, University of Vienna, and the Austrian Reference Center for Human Prion Diseases.
authors.forename: J A
authors.initials: JA
authors.lastname: Hainfellner
authors.forename: P
authors.initials: P
authors.lastname: Parchi
authors.forename: T
authors.initials: T
authors.lastname: Kitamoto
authors.forename: C
authors.initials: C
authors.lastname: Jarius
authors.forename: P
authors.initials: P
authors.lastname: Gambetti
authors.forename: H
authors.initials: H
authors.lastname: Budka
mesh_terms: D000368:Aged; D015153:Blotting, Western; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011328:Prions / Q000235:genetics*; D014633:Valine / Q000235:genetics*
chemical_list: D011328:Prions; D014633:Valine