|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The study population included 477 CJD patients (266 with fCJD,145 with sporadic CJD (sCJD) and 66 patients of Libyan origin but negative family history) from the Israeli registry of CJD conducted since 1954.
|
31814268 |
2020 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We encountered an autopsy case of sporadic Creutzfeldt-Jakob disease (CJD) pathologically classified as MM1+2C-type, where Western blot analysis of prion protein (PrP) mainly showed type-1 scrapie PrP (PrP<sup>Sc</sup> ) but also, partially, mixed type-2 PrP<sup>Sc</sup> .
|
31062411 |
2019 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sporadic Creutzfeldt-Jakob disease (CJD), the most common human prion disease, is generally regarded as a spontaneous neurodegenerative illness, arising either from a spontaneous PRNP somatic mutation or a stochastic PrP structural change.
|
29887134 |
2018 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in the human prion protein gene (PRNP) have been identified in 10-15 % of CJD patients.
|
27324792 |
2017 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We analyzed 128 suitable frontal cortex samples, from prion-affected patients (variant Creutzfeldt-Jakob disease (vCJD) n = 20, iatrogenic CJD (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Sträussler-Scheinker syndrome (GSS)) n = 4), patients with Alzheimer disease (AD, n = 14) and age-matched controls (n = 30).
|
29142239 |
2017 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To report two members of the same family carrying the valine to isoleucine point mutation of the prion protein gene (PRNP) and presenting with visual symptoms as initial manifestation as in the "Heidenhain variant" of sporadic Creutzfeldt-Jakob disease (CJD).
|
26268049 |
2016 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The genotype (methionine, M or valine, V) at polymorphic codon 129 of the PRNP gene and the type (1 or 2) of abnormal prion protein in the brain are the major determinants of the clinicopathological features of sporadic Creutzfeldt-Jakob disease (CJD), thus providing molecular basis for classification of sporadic CJD, that is, MM1, MM2, MV1, MV2, VV1 or VV2.
|
25851836 |
2016 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Extrapolation of our results suggests that L-BSE may propagate in humans as an unrecognized form of CJD, and we urge both the continued utilization of precautionary measures to eliminate these agents from the human food chain and active surveillance for CJD phenotypes in the general population.
|
27681129 |
2016 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Susceptibility to and phenotypic expression of Creutzfeldt-Jakob disease (CJD) depend on both the prion strain and genotype at polymorphic codon 129 of the PRNP gene.
|
25609817 |
2015 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The present study compares the clinical, pathological and molecular features of a United States (US) case of growth hormone (GH)-associated Creutzfeldt-Jakob disease (GH-CJD) (index case) to those of two earlier referred US cases of GH-CJD and one case of dura mater (d)-associated CJD (dCJD).
|
26108478 |
2015 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, 129M/V heterozygotes predispose to genetic CJD caused by a pathogenic PRNP mutation at codon 180.
|
26022925 |
2015 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Finally, serine 43 of PrP(C) in the CSF and brain tissue from CJD patients showed more pronounced phosphorylation than in control donors.
|
24360565 |
2014 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CJD displays distinctive clinical and pathological features which correlate with the genotype at the codon 129 (methionine or valine: M or V respectively) in the prion protein gene and with size of the protease-resistant core of the abnormal prion protein PrP(sc) (type 1: 20/21 kDa and type 2: 19 kDa).
|
24047819 |
2014 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Meanwhile, the two siRNAs also showed a significant effect on the reduction of the expression of the PrP-PG9 and PrP-PG12 familial Creutzfeldt-Jakob disease (CJD)-associated PrP mutants with four and seven extra octarepeats, in the cells transfected with the respective expression plasmids.
|
21537833 |
2011 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.
|
20730466 |
2010 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The CJD patient who was first reported in China has a missense mutation in codon 200 (E200K) of the PRNP, and the codon 129 is a methionine homozygous genotype.
|
20514992 |
2010 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The E200K mutation in the prion protein (PrP) gene (PRNP) is the most frequent cause of familial CJD.
|
19822779 |
2009 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An atypical case of inherited Creutzfeldt-Jakob disease (CJD) is described in a 35-year-old Dutch woman, homozygous for methionine at codon 129 of the prion protein gene (PRNP).
|
19917818 |
2009 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Surprisingly, the human PrP 219K molecule was converted to PrP(Sc) in variant CJD infection, and the conversion occurred more efficiently than PrP 219E molecule.
|
19074151 |
2009 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
There was significant loss of these neurons in the subset of cases with Val/Val genotype at PRNP Codon 129 and Molecular Isotype 2 of abnormal PrP (sporadic CJD-VV2) (n=32) compared with both the other CJD subtypes and to controls.
|
19606064 |
2009 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of disease-related PrP (PrP(Sc)) showed marked alteration in the PrP(Sc) glycoform ratio propagated after transmission of classical CJD prions, consistent with the PrP point mutations directly influencing PrP(Sc) assembly.
|
19218199 |
2009 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Approximately 10% to 20% of CJD cases appear within families and are linked to point or insert mutations in the prion protein gene (PRNP).
|
19818228 |
2009 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our proband was MM homozygous for the M129V polymorphism within the prion protein gene (PRNP), a known risk factor for CJD.
|
18236005 |
2008 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in the glycosylphosphatidylinositol signal peptide (GPI-SP) of the prion protein (PrP(C)) segregate with familial Creutzfeldt-Jakob disease (CJD).
|
18325785 |
2008 |
|
Other Creutzfeldt-Jakob disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An atypical case of sporadic Creutzfeldt-Jakob disease (CJD) is described in a 78-year-old woman homozygous for methionine at codon 129 of the prion protein (PrP) gene.
|
18024694 |
2007 |