NR AFAL
AU Hainfellner,J.A.; Parchi,P.; Kitamoto,T.; Jarius,C.; Gambetti,P.; Budka,H.
TI 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.
QU Annals of Neurology 1999 Jun; 45(6): 812-6
KI Ann Neurol. 2000 Aug;48(2):269-70. PMID: 10939584
PT journal article
AB 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 (PrPres). This observation further underlines the role of codon 129 on the mutated PRNP allele in modulating the phenotype of familial prion diseases.
MH Aged; Blotting, Western; Case Report; Creutzfeldt-Jakob Syndrome/*genetics; Female; Genotype; Human; Mutation/genetics; Pedigree; Phenotype; Prions/*genetics; Valine/*genetics
AD Institute of Neurology, University of Vienna, and the Austrian Reference Center for Human Prion Diseases.
SP englisch
PO USA