An autopsy case of Creutzfeldt-Jakob disease with a prion protein gene codon 180 mutation presenting with pathological laughing and an exaggerated startle reaction

2017 ◽  
Vol 37 (6) ◽  
pp. 575-581 ◽  
Author(s):  
Yasushi Iwasaki ◽  
Keiko Mori ◽  
Masumi Ito ◽  
Akio Akagi ◽  
Maya Mimuro ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Startle Reaction ◽  
Prion Protein Gene ◽  
Autopsy Case ◽  
Jakob Disease

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.

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

Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene

1999 ◽  
Vol 46 (5) ◽  
pp. 693-700 ◽  
Author(s):  
K. H. Skworc ◽  
O. Windl ◽  
W. J. Schulz-Schaeffer ◽  
A. Giese ◽  
J. Bergk ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Jakob Disease

An autopsied case of panencephalopathic-type Creutzfeldt-Jakob disease with mutation in the prion protein gene at codon 232 and type 1 prion protein

2009 ◽  
Vol 29 (6) ◽  
pp. 727-734 ◽  
Author(s):  
Tetsuo Hama ◽  
Yasushi Iwasaki ◽  
Hisayoshi Niwa ◽  
Mari Yoshida ◽  
Yoshio Hashizume ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Jakob Disease ◽  
Panencephalopathic Type

Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene

Neurology ◽  
2002 ◽  
Vol 59 (10) ◽  
pp. 1628-1630 ◽  
Author(s):  
S. Capellari ◽  
P. Parchi ◽  
B.D. Wolff ◽  
J. Campbell ◽  
R. Atkinson ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Jakob Disease
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