scholarly journals Complete Penetrance of Creutzfeldt-Jakob Disease in Libyan Jews Carrying the E200K Mutation in the Prion Protein Gene

1995 ◽  
Vol 1 (6) ◽  
pp. 607-613 ◽  
Author(s):  
Serena Spudich ◽  
James A. Mastrianni ◽  
Margaret Wrensch ◽  
Ruth Gabizon ◽  
Zeev Meiner ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Complete Penetrance ◽  
E200k Mutation ◽  
Jakob Disease

scholarly journals Age at Death of Creutzfeldt-Jakob Disease in Subsequent Family Generation Carrying the E200K Mutation of the Prion Protein Gene

PLoS ONE ◽  
2013 ◽  
Vol 8 (4) ◽  
pp. e60376 ◽  
Author(s):  
Maurizio Pocchiari ◽  
Anna Poleggi ◽  
Maria Puopolo ◽  
Marco D’Alessandro ◽  
Dorina Tiple ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Age At Death ◽  
E200k Mutation ◽  
Jakob Disease ◽  
Family Generation

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

1999 ◽  
Vol 45 (6) ◽  
pp. 812-816 ◽  
Author(s):  
Johannes A. Hainfellner ◽  
Piero Parchi ◽  
Tetsuyuki Kitamoto ◽  
Christa Jarius ◽  
Pierluigi Gambetti ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
E200k Mutation ◽  
Jakob Disease ◽  
Codon 129

Prion protein gene analysis in new variant cases of Creutzfeldt-Jakob disease

The Lancet ◽  
1996 ◽  
Vol 348 (9019) ◽  
pp. 56 ◽  
Author(s):  
John Collinge ◽  
Jonathan Beck ◽  
Tracy Campbell ◽  
Kathy Estibeiro ◽  
Robert G Will
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Gene Analysis ◽  
Prion Protein Gene ◽  
New Variant ◽  
Jakob Disease

Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt–Jakob disease

2014 ◽  
Vol 21 (1) ◽  
pp. 175-178 ◽  
Author(s):  
Hongliang Zhang ◽  
Meibo Wang ◽  
Limin Wu ◽  
Haining Zhang ◽  
Tao Jin ◽  
...  
Keyword(s):  
Prion Protein ◽  
Gene Mutation ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Jakob Disease

scholarly journals The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt–Jakob Disease

Cells ◽  
2021 ◽  
Vol 10 (11) ◽  
pp. 3132
Author(s):  
Yong-Chan Kim ◽  
Byung-Hoon Jeong
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Meta Analysis ◽  
Prnp Gene ◽  
Case Control ◽  
Prion Protein Gene ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Jakob Disease ◽  
Sporadic Cjd

Prion diseases are fatal, chronic, and incurable neurodegenerative diseases caused by pathogenic forms of prion protein (PrPSc) derived from endogenous forms of prion protein (PrPC). Several case–control and genome-wide association studies have reported that the M129V polymorphism of the human prion protein gene (PRNP) is significantly associated with susceptibility to sporadic Creutzfeldt–Jakob disease (CJD). However, since some case–control studies have not shown these associations, the results remain controversial. We collected data that contain the genotype and allele frequencies of the M129V single-nucleotide polymorphism (SNP) of the PRNP gene and information on ethnic backgrounds from sporadic CJD patients. We performed a meta-analysis by collecting data from eligible studies to evaluate the association between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD. We found a very strong association between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD using a meta-analysis for the first time. We validated the eligibility of existing reports and found severe heterogeneity in some previous studies. We also found that the MM homozygote is a potent risk factor for sporadic CJD compared to the MV heterozygote in the heterozygote comparison model (MM vs. MV, odds ratio = 4.9611, 95% confidence interval: 3.4785; 7.0758, p < 1 × 10−10). To the best of our knowledge, this was the first meta-analysis assessment of the relationship between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD.

An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene

2010 ◽  
Vol 31 (6) ◽  
pp. 837-839 ◽  
Author(s):  
Carlo Masullo ◽  
Alessandra Bizzarro ◽  
Valeria Guglielmi ◽  
Elisabetta Iannaccone ◽  
Giacomo Minicuci ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
E200k Mutation ◽  
Atypical Phenotype

Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment

2005 ◽  
Vol 109 (4) ◽  
pp. 443-448 ◽  
Author(s):  
Sigrun Roeber ◽  
Bjarne Krebs ◽  
Manuela Neumann ◽  
Otto Windl ◽  
Inga Zerr ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Protein Fragment ◽  
Jakob Disease

scholarly journals Erratum to: R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease

2013 ◽  
Vol 260 (12) ◽  
pp. 3199-3199 ◽  
Author(s):  
Maria Gabriella Vita ◽  
Simona Gaudino ◽  
Daniela Giuda ◽  
Donato Sauchelli ◽  
Paolo Emilio Alboini ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Jakob Disease

scholarly journals Creutzfeldt-Jakob Disease, Prion Protein Gene Codon 129VV, and a Novel PrPSc Type in a Young British Woman

2007 ◽  
Vol 64 (12) ◽  
pp. 1780 ◽  
Author(s):  
Simon Mead ◽  
Susan Joiner ◽  
Melanie Desbruslais ◽  
Jonathan A. Beck ◽  
Michael O’Donoghue ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Jakob Disease
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