Premium
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
Author(s) -
Hainfellner Johannes A.,
Parchi Piero,
Kitamoto Tetsuyuki,
Jarius Christa,
Gambetti Pierluigi,
Budka Herbert
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199906)45:6<812::aid-ana20>3.0.co;2-2
Subject(s) - prion protein , phenotype , mutation , gene , genetics , biology , virology , valine , disease , amino acid , medicine , pathology
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. Ann Neurol 1999;45:812–816