|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Exome sequencing of the three CJD patients with E200K and 11 of the family of one patient (case1) were performed using the Illumina HiSeq 2000.
|
25149502 |
2014 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The aim of the present study was to investigate possible selection biases or confounding factors related to anticipation in E200K CJD patients belonging to a cluster in Southern Italy.
|
23565236 |
2013 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To this effect, we subjected blood mRNA from E200K PrP CJD patients and corresponding family members to global arrays and found that the expression of Snord3A, a non-coding RNA transcript, was elevated several times in CJD patients as compared to controls, while asymptomatic carriers presented intermediate Snord3A levels.
|
23349890 |
2013 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.
|
20730466 |
2010 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To our knowledge, this is the first description of Abeta plaques in familial CJD with the E200K mutation.
|
19822779 |
2009 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Prions from E200K and classical CJD M129 homozygous patients, transmitted disease with equivalent efficiencies and short incubation periods in human PrP 200K, 129M transgenic mice.
|
19218199 |
2009 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An identical pathogenic mutation at the homologous codon position (E200K) in the human Prnp has been described as the most common cause of genetic CJD.
|
18787697 |
2008 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Insomnia may be a prominent early symptom in cases of CJD linked to the E200K-129M haplotype in which the thalamus is severely affected.
|
11839833 |
2002 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
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)).
|
10360778 |
1999 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We studied prion proteins (PrP) in skin and brains of Libyan Jews carrying the E200K mutation who died of familial Creutzfeldt-Jakob disease (CJD).
|
8564843 |
1996 |
|
rs1800014
|
|
|
0.030 |
GeneticVariation |
BEFREE |
For example, although 219E/K heterozygosity confers resistance against the development of sporadic CJD, this genotype is not entirely protective against acquired forms (iatrogenic CJD and variant CJD) or genetic forms (genetic CJD and Gerstmann-Sträussler-Scheinker syndrome) of prion diseases.
|
26022925 |
2015 |
|
rs1800014
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Prion protein gene (PRNP) E219K is a human polymorphism commonly occurring in Asian populations but is rarely found in patients with sporadic Creutzfeldt-Jakob disease (CJD).
|
19074151 |
2009 |
|
rs1800014
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In addition, we examined 43 patients with dementia of non-CJD origin, and 4 were found to have the codon 219Glu/Lys heterozygous polymorphism with a similar allele frequency as in the general population.
|
9629853 |
1998 |
|
rs74315407
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This report suggests to consider the diagnosis of V210I genetic CJD in patients presenting with the Heidenhain form of CJD and highlights the importance of genetic testing in all patients with isolated visual manifestations at onset followed by progressive neurological signs and dementia.
|
26268049 |
2016 |
|
rs1799990
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, 129M/V heterozygotes predispose to genetic CJD caused by a pathogenic PRNP mutation at codon 180.
|
26022925 |
2015 |
|
rs74315407
|
|
|
0.020 |
GeneticVariation |
BEFREE |
MRI provides useful information in E200K and V210I gCJD patients.
|
22407223 |
2013 |
|
rs1799990
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our proband was MM homozygous for the M129V polymorphism within the prion protein gene (PRNP), a known risk factor for CJD.
|
18236005 |
2008 |
|
rs1178466848
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic forms show a striking variability in their clinical and neuropathological picture and can sometimes mimic other neurodegenerative diseases.We report a novel PRNP mutation (V189I) in four CJD patients from three unrelated pedigrees.
|
30606247 |
2019 |
|
rs773268484
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The AQP1 levels also increased in the cortex regions of some human prion diseases, including the patients with sporadic Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI) and G114V genetic CJD (gCJD).
|
31814527 |
2019 |
|
rs295301
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNPs at the ZBTB38-RASA2 locus were associated with CJD in the UK (rs295301, P = 3.13 × 10(-8); OR, 0.70) but these SNPs showed no replication evidence of association in German sCJD or in Papua New Guinea-based tests.
|
22210626 |
2012 |
|
rs638405
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Provided that common pathophysiologic mechanisms are shared by Alzheimer's and Creutzfeldt-Jakob (CJD) diseases, we investigated for the first time to the best of our knowledge a possible association of a common synonymous BACE1 polymorphism (rs638405) with sporadic CJD (sCJD).
|
22952813 |
2012 |
|
rs1290309353
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.
|
20730466 |
2010 |
|
rs767181086
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs1191139947
|
|
|
0.010 |
GeneticVariation |
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 |