Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
rs74315401
Gerstmann-Straussler-Scheinker Disease
0.900 GeneticVariation BEFREE The final diagnosis of P102L GSS was made after PRNP sequencing. 29509064

2018

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
rs74315401
Gerstmann-Straussler-Scheinker Disease
0.900 GeneticVariation BEFREE Involvement of the spinal posterior horn in Gerstmann-Sträussler-Scheinker disease (PrP P102L). 9932941

1999

dbSNP: rs74315401
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

dbSNP: rs74315401
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

dbSNP: rs74315401
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