rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In contrast, t-PrP concentrations in P102L mutants (associated with the Gerstmann-Sträussler-Scheinker syndrome) remained unaltered.
|
30062673 |
2019 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.
|
31397917 |
2019 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The final diagnosis of P102L GSS was made after PRNP sequencing.
|
29509064 |
2018 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This is the first report of presumed sporadic Creutzfeldt-Jakob disease (sCJD) and Gerstmann-Sträussler-Scheinker disease (GSS) with the prion protein gene c.305C>T mutation (p.P102L) occurring in one family.
|
29889261 |
2018 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Thalamic involvement determined using VSRAD advance on MRI and easy Z-score analysis of <sup>99m</sup>Tc-ECD-SPECT in Gerstmann-Sträussler-Scheinker syndrome with P102L mutation.
|
28131204 |
2017 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We show that GSS with P102L, A117V and F198S mutations transmit efficiently and produce distinct pathological phenotypes in bank voles (M. glareolus), irrespective of the presence of 21 kDa PrP(res) in the inoculum, demonstrating that GSS is a genuine prion disease characterized by both transmissibility and strain variation.
|
26841849 |
2016 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A proline to leucine substitution at PrP residue 102 (P102L) is classically associated with Gerstmann-Sträussler-Scheinker (GSS) disease but shows marked clinical and neuropathological variability within kindreds that may be caused by variable propagation of distinct prion strains generated from either PrP 102L or wild type PrP.
|
26135918 |
2015 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The pathogenic basis of phenotypic variability observed in this family remains unclear, but resembles that observed in other P102L GSS patients from the same family.
|
23944754 |
2014 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L.
|
23555862 |
2013 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease with the P102L mutation.
|
22384235 |
2012 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu.
|
21167505 |
2011 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
|
19927125 |
2010 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A P102L point mutation in the prion protein gene (PRNP) usually causes Gerstmann-Sträussler-Scheinker disease (GSS), which is a rare hereditary transmissible spongiform encephalopathy (TSE).
|
19696976 |
2010 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We have established a Drosophila model of Gerstmann-Sträussler-Scheinker (GSS) syndrome by expressing mouse prion protein (PrP) having leucine substitution at residue 101 (MoPrP(P101L)).
|
20829230 |
2010 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann-Sträussler-Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the PRNP gene.
|
18566986 |
2008 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family.
|
19030774 |
2008 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
These results indicate that transgenic Drosophila expressing neuronal P101L PrP specifically exhibit several hallmark features of human Gerstmann-Sträussler-Scheinker (GSS) syndrome.
|
17135402 |
2006 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJD), two with dural graft associated CJD (dCJD), one with Gerstmann-Straussler-Scheinker disease (GSS) with a PrP P102L mutation (GSS102), and two with a P105L mutation (GSS105).
|
15716520 |
2005 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We describe a patient with GSS and P102L-V129 mutation in which the onset with prominent psychiatric features characterized by apathy and depression and not with cerebellar sign and the clinical course with seizures, nor observed in P102L-V129 cases, allow us to confirm observations that the GSS caused by the 102 mutation is influenced by the codon 129 polymorphism with a specific genotype-phenotype influence, but probably other additional factors might be considered as background for phenotypic variability.
|
14659783 |
2004 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Sträussler-Scheinker disease.
|
12682740 |
2003 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A gene-targeted mouse model of P102L Gerstmann-Sträussler-Scheinker syndrome.
|
12733430 |
2003 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-Scheinker syndrome P102L mutation complicated with dementia.
|
12200619 |
2002 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L.
|
11967261 |
2002 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.
|
11709001 |
2001 |
rs74315401
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The goodness of this method is demonstrated in the analysis of three sporadic CJD patients with different genotypes at codon 129 and three inherited cases bearing different point mutations of PRNP: the Pro102Leu mutation linked to Gerstmann-Sträussler-Scheinker-syndrome, the Val210Ile mutation and a novel mutation at codon 211 (Gln211Glu) both associated to familial CJD.
|
10936643 |
2000 |