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 |
We present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene.
|
1348851 |
1992 |
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 |
We describe a patient with GSS disease in whom the P102L mutation is in coupling with valine at residue 129.
|
9030710 |
1997 |
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 |
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 |
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Transgenic mice expressing high levels of MoPrP-P101L, corresponding to the GSS point mutation (P102L) in human PrP, spontaneously develop neurologic dysfunction, spongiform degeneration, and astrocytic gliosis.
|
8105771 |
1993 |
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 |
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 |
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 |
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 |
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 |
The final diagnosis of P102L GSS was made after PRNP sequencing.
|
29509064 |
2018 |
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 |
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 |
Substitution of leucine for proline at codon 102 of the prion protein gene has been found in several families with the disease; this mutation is genetically linked to GSS.
|
1685324 |
1991 |
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Proteinase K (PK)-resistant prion protein (PrPres) isoforms were examined in three patients with Gerstmann-Sträussler-Scheinker syndrome (GSS) carrying proline-to-leucine mutation at codon 102 in prion protein gene (PRNP), and in nine patients with sporadic Creutzfeldt-Jakob disease (CJD).
|
9667781 |
1998 |
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation).
|
8797472 |
1996 |
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 |
Neurological and neuropathological features in the patients were atypical of the classic form of GSS with P102L mutation.
|
9153600 |
1997 |
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 |
Involvement of the spinal posterior horn in Gerstmann-Sträussler-Scheinker disease (PrP P102L).
|
9932941 |
1999 |
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 |
Immunoblot analysis of brain homogenates from GSS P102L patients showed two major protease-resistant PrP fragments (PrP-res) with molecular masses of approximately 21 and 8 kDa, respectively.
|
9653185 |
1998 |
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 |