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rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene.
|
31397917 |
2019 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
While numerous proteins form fibrils by prion-like seeded polymerization <i>in vitro</i>, only some are transmissible and pathogenic <i>in vivo</i> To probe the structural features that confer transmissibility to prion protein (PrP) fibrils, we have analyzed synthetic PrP amyloids with or without the human prion disease-associated P102L mutation.
|
28835493 |
2017 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP).
|
27341347 |
2016 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker (GSS) P102L disease is a familial form of a transmissible spongiform encephalopathy (TSE) that can present with or without vacuolation of neuropil.
|
21645162 |
2012 |
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rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our findings enlarge the spectrum of conformational allelic PrP(Sc) quasispecies propagating in GSS P102L thus providing a molecular support to the spectrum of disease phenotypes, and, in addition, impact the diagnostic role of PrP immunohistochemistry in prion diseases.
|
22384235 |
2012 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia.
|
21167505 |
2011 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Eighty-three percent of TSE cases were sporadic CJD; 17% were genetic, mainly E200K (15.6%); the remaining 1.4% included an octarepeat insertion and two Gerstmann-Sträussler-Scheinker cases (P102L).
|
22067221 |
2011 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan.
|
19696976 |
2010 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.
|
18757886 |
2008 |
|
rs74315401
|
|
|
0.800 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We studied two patients with symptomatic inherited prion disease (P102L) and two pre-symptomatic P102L gene carriers using quantitative magnetic resonance spectroscopy (MRS).
|
16598479 |
2006 |
|
rs74315401
|
|
|
0.800 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Here we report that this peptide-induced disease can be serially passaged in Tg196 mice and that the PrP conformers accompanying disease progression are conformationally indistinguishable from MoPrP(Sc)(P101L) found in Tg2866 mice developing spontaneous prion disease</span>.
|
14747574 |
2004 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker disease (GSS) is a hereditary transmissible spongiform encephalopathy associated with prion protein gene mutation P102L.
|
12682740 |
2003 |
|
rs74315401
|
|
|
0.800 |
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
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