|
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.
|
31397917 |
2019 |
|
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In contrast, t-PrP concentrations in P102L mutants (associated with the Gerstmann-Sträussler-Scheinker syndrome) remained unaltered.
|
30062673 |
2019 |
|
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The final diagnosis of P102L GSS was made after PRNP sequencing.
|
29509064 |
2018 |
|
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A gene-targeted mouse model of P102L Gerstmann-Sträussler-Scheinker syndrome.
|
12733430 |
2003 |
|
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L.
|
11967261 |
2002 |
|
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The authors report the second recorded example of a sporadic CJD phenotype occurring in association with the P102L GSS genotype, and the first instance in which the phenotype was the rule rather than the exception, or was associated with prominent beta-A4 plaque formation.
|
10851377 |
2000 |
|
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
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 |
|
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 sporadic CJD (sCJD), 1 iatrogenic CJD, 1 Gerstmann-Sträussler-Scheinker syndrome (GSS) with the Pro102Leu mutation of PrP, 3 familial CJD (fCJD) with the Glu200Lys mutation and, for the first time, 7 fCJD with the Val210ll3e mutation.
|
10483920 |
1999 |