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

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‐129...

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Bibliographic Details
Published in:Annals of neurology 1999-06, Vol.45 (6), p.812-816
Main Authors: Hainfellner, Johannes A., Parchi, Piero, Kitamoto, Tetsuyuki, Jarius, Christa, Gambetti, Pierluigi, Budka, Herbert
Format: Article
Language:English
Subjects:
Aged
Biological and medical sciences
Blotting, Western
Creutzfeldt-Jakob Syndrome - genetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Genotype
Humans
Medical sciences
Mutation - genetics
Neurology
Pedigree
Phenotype
Prions - genetics
Valine - genetics
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Summary: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. Ann Neurol 1999;45:812–816
ISSN:0364-5134
1531-8249
DOI:10.1002/1531-8249(199906)45:6<812::AID-ANA20>3.0.CO;2-2