|
Sporadic CJD
|
0.100 |
Biomarker
|
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 |
|
Sporadic CJD
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, prion protein genotyping detected MV heterozygosity at codon 129 and post-mortem histopathological examination was consistent with sporadic CJD.
|
30446965 |
2019 |
|
Sporadic CJD
|
0.100 |
Biomarker
|
disease |
BEFREE |
The presence of pathology related to the deposition of amyloid-β (Aβ) has been recently reported in iatrogenic Creutzfeldt-Jakob disease (iCJD) acquired from inoculation of growth hormone (GH) extracted from human cadaveric pituitary gland or use of cadaveric dura mater (DM) grafts.To investigate this phenomenon further, a cohort of 27 iCJD cases - 21 with adequate number of histopathological sections - originating from Australia, France, Italy, and the Unites States, were examined by immunohistochemistry, amyloid staining, and Western blot analysis of the scrapie prion protein (PrP<sup>Sc</sup>), and compared with age-group matched cases of sporadic CJD (sCJD), Alzheimer disease (AD) or free of neurodegenerative diseases (non-ND).Cases of iCJD and sCJD shared similar profiles of proteinase K-resistant PrP<sup>Sc</sup> with the exception of iCJD harboring the "MMi" phenotype.
|
29310723 |
2018 |
|
Sporadic CJD
|
0.100 |
Biomarker
|
disease |
BEFREE |
Experimental transmission of CJD-MV<sup>AG</sup> to bank voles and gene-targeted transgenic mice carrying the human prion protein gene (TgHu mice) showed unique transmission rates, survival times, neuropathological changes, PrP<sup>TSE</sup> deposition patterns, and PrP<sup>TSE</sup> glycotypes that are distinct from those of sCJD-MV1 and sCJD-MV2.
|
28298604 |
2017 |
|
Sporadic CJD
|
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 |
|
Sporadic CJD
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Bioassays in transgenic mice expressing the human prion protein revealed the presence of unexpectedly high levels of infectivity in the bone marrow from seven out of eight sCJD cases.
|
28791720 |
2017 |
|
Sporadic CJD
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study confirms the usefulness of the recent modification of diagnosis criteria by the addition of the results of CSF real-time quaking-induced conversion, a method based on prion seed-induced misfolding and aggregation of recombinant prion protein substrate that has proven to be a highly specific test for diagnosis of sporadic CJD.
|
29043964 |
2017 |
|
Sporadic CJD
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this model, the inoculation of the sporadic CJD strain V2 into animals homozygous for methionine at polymorphic codon 129 (129 M/M) of the PRNP gene produced quite distinctive neuropathological and biochemical features, that is, widespread kuru plaques and intermediate type abnormal PrP (PrP(Sc) ).
|
26669818 |
2016 |
|
Sporadic CJD
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The majority of cases is represented by a non-plaque-type (np-dCJD) resembling sporadic CJD (sCJD)-MM1 or -MV1, while the minority by a plaque-type (p-dCJD). p-dCJD shows distinctive phenotypic features, namely numerous kuru plaques and an abnormal isoform of prion protein (PrP(Sc)) intermediate in size between types 1 and 2.
|
26878132 |
2016 |
|
Sporadic CJD
|
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 |
|
Sporadic CJD
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autopsy examination revealed a neuropathological phenotype reminiscent of both sCJDMV2-K (a sporadic CJD subtype in subjects methionine/valine heterozygous at codon 129 with PrP(Sc) type 2 and the presence of kuru plaques) and variant CJD (vCJD).
|
26108478 |
2015 |
|
Sporadic CJD
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Total PrP protein levels and PrP(sc) levels in the frontal cortex and cerebellum accumulate differentially in sCJD MM1 and sCJD VV2 with no relation between PrP(sc) deposition and spongiform degeneration and neuron loss, but with microgliosis, and IL6 and TNF-α response.
|
24047819 |
2014 |
|
Sporadic CJD
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Our findings support the hypothesis that polymorphism in the regulatory region of the PRNP gene may play an important role in the pathogenesis of sCJD.
|
22505365 |
2012 |
|
Sporadic CJD
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These results extend the very short list of genes (other than PRNP) involved in the development of human prion diseases; and support the notion that similar to AD, in sCJD several loci may contribute with modest overall effects to disease risk.
|
22952813 |
2012 |
|
Sporadic CJD
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, the ability of a sporadic CJD molecular subtype to use a specific PrP(C) substrate was not determined solely by codon 129 as the efficiency of prion propagation was also influenced by the composition of the brain tissue from which the PrP(C) substrate was sourced, thus indicating that nuances in PrP(C) or additional factors may determine sporadic CJD subtype.
|
22930754 |
2012 |
|
Sporadic CJD
|
0.100 |
Biomarker
|
disease |
BEFREE |
Interestingly, when AD and sCJD patients were stratified according to their respective main risk genes (APOE for AD, and PRNP for sCJD), we found statistically significant associations for the other gene in those strata at higher previous risk.
|
21799773 |
2011 |
|
Sporadic CJD
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The E200K mutation is the most frequent prion protein gene (PRNP) mutation detected worldwide that is associated with Creutzfeldt-Jakob disease (CJD) and thought to have overlapping features with sporadic CJD, yet detailed neuropathological studies have not been reported.
|
20593190 |
2011 |
|
Sporadic CJD
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings support the hypothesis that genetic variations in the PRNP promoter may have a role in the pathogenesis of sCJD.
|
21600043 |
2011 |
|
Sporadic CJD
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
An inverse correlation was found between disease duration and Tau levels in both gCJDE200K and sCJD (r = -0.464 and r = -0.284).
|
20827556 |
2011 |
|
Sporadic CJD
|
0.100 |
Biomarker
|
disease |
BEFREE |
A similar association was found in a small sample of patients with iatrogenic CJD (p=0.030) but not in patients with sporadic CJD (sCJD) or kuru.
|
19081515 |
2009 |
|
Sporadic CJD
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A higher frequency of the ApoE4 allele in sCJD with a PFHD could be indicative of an additional risk factor in CJD.
|
17822808 |
2009 |
|
Sporadic CJD
|
0.100 |
Biomarker
|
disease |
BEFREE |
In addition to variant CJD infection, the human PrP 219K molecule is conversion-competent in transmission experiments with sporadic CJD prions.
|
19074151 |
2009 |
|
Sporadic CJD
|
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 |
|
Sporadic CJD
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Several recent reports indicate that polymorphisms outside the coding region of PRNP modulate the expression of prion protein and are associated with sporadic CJD, although other studies failed to show an association.
|
19351416 |
2009 |
|
Sporadic CJD
|
0.100 |
Biomarker
|
disease |
BEFREE |
Furthermore, the 129V/V mice were more susceptible to p-dCJD prions than the 129M/M mice and produced type 2 PrP(Sc) that were identical in size to those from the 129V/V mice inoculated with sporadic CJD prions from a patient with 129V/V and type 2 PrP(Sc) (sCJD-VV2).
|
19659941 |
2009 |