|
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome.
|
2783132 |
1989 |
|
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 |
A gene-targeted mouse model of P102L Gerstmann-Sträussler-Scheinker syndrome.
|
12733430 |
2003 |
|
rs74315401
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A mutation equivalent to P102L in the human PrP gene, associated with Gerstmann-Straussler syndrome (GSS), has been introduced into the murine PrP gene by gene targeting.
|
10581259 |
1999 |
|
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 |
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 |
Among the pathologic phenotypes of GSS, we recognize those without and with marked spongiform degeneration.In the latter (i.e. a subset of GSS P102L patients) we observed 3 major proteinase-K resistant PrP (PrPres) isoforms of ca.
|
9786248 |
1998 |
|
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 |
Ataxic GSS in families shows genetic linkage to a mutation in the PrP gene, leading to the substitution of Leu for Pro at codon 102.
|
1684745 |
1991 |
|
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 |
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 |
Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.
|
31397917 |
2019 |
|
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 |
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 |
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 |
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 |
Involvement of the spinal posterior horn in Gerstmann-Sträussler-Scheinker disease (PrP P102L).
|
9932941 |
1999 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |