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.

References

Page 1

	Year	Citations
Evidence for the Conformation of the Pathologic Isoform of the Prion Protein Enciphering and Propagating Prion Diversity Glenn C. Telling, Piero Parchi, Stephen J. DeArmond, Science	1996	870
Molecular basis of phenotypic variability in sporadc creudeldt‐jakob disease Piero Parchi, Rudolph J. Castellani, Sabina Capellari, Annals of Neurology	1996	868
Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA Polymorphism Lev G. Goldfarb, Robert B. Petersen, Massimo Tabaton, Science	1992	716
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. L. Monari, Shu G. Chen, Patrick O. Brown, Proceedings of the National Academy of Sciences	1994	327
Prion protein NMR structure and familial human spongiform encephalopathies Roland Riek, Gerhard Wider, Martin Billeter, Proceedings of the National Academy of Sciences Creutzfeldt-jakob DiseaseM PrpMedicineGeneticsHuman Prp	1998	246
The Original Gerstmann‐Sträussler‐Scheinker Family of Austria: Divergent Clinicopathological Phenotypes but Constant PrP Genotype Johann A. Hainfellner, Sigrid Brantner‐Inthaler, Larisa Červen̆áková, Brain Pathology	1995	141
Form and Function Relationships in Lateral Line Systems: Comparative Data from Six Species of Antarctic Notothenioid Fish John C. Montgomery, Sheryl Coombs, John Janssen Brain Behavior and Evolution Function RelationshipsEngineeringOceanographyAnatomyView Canals	1994	99
Human prion diseases with variant prion protein Tetsuyuki Kitamoto, Jun Tateishi Philosophical Transactions of the Royal Society B Biological Sciences	1994	90
Deletions in the prion protein gene are not associated with CJD Mark S. Palmer, Sukhvir P. Mahal, Tracy Campbell, Human Molecular Genetics Creutzfeldt-jakob DiseaseGeneticsMolecular BiologyPathologyGene Characterization	1993	88
The primary structure of the prion protein influences the distribution of abnormal prion protein in the central nervous system. Tetsuyuki Kitamoto, Katsumi Doh‐ura, Tamaki Muramoto, PubMed	1992	62

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