|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Creutzfeldt-Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann-Sträussler syndrome.
|
2180366 |
1990 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One patient of a French family with Gerstmann-Sträussler-Scheinker syndrome with the mutation in codon 117 of the prion protein (PrP) gene displayed unexpected neuritic degeneration around PrP plaques and numerous diffuse neurofibrillary tangles, whereas other members did not.
|
9285466 |
1997 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gerstmann-Sträussler-Scheinker disease in the Indiana kindred is pathologically characterized by prion protein amyloid deposits and neurofibrillary tangles (NFT) with paired helical filaments (PHF).
|
8358624 |
1993 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we have investigated the stability and Cu(II) binding properties of three recombinant variants of murine full-length PrP(23-231)-containing destabilizing point mutations that are associated with human Gerstmann-Sträussler-Scheinker disease (F198S), Creutzfeld-Jakob disease (E200K), and fatal familial insomnia (D178N) by electron paramagnetic resonance and circular dichroism spectroscopy.
|
12609901 |
2003 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Sträussler-Scheinker disease.
|
12682740 |
2003 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gerstmann-Sträussler-Scheinker disease (GSS) is an inherited neurodegenerative disorder associated with mutations in the prion protein gene and accumulation of misfolded PrP with protease-resistant fragments (PrP(res)) of 6-8 kDa.
|
26841849 |
2016 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gerstmann-Sträussler syndrome (GSS) was diagnosed in a family with presenile dementia by prion protein gene analysis.
|
1973256 |
1990 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, PrP202N cells show increased sensitivity to free radicals, indicating that neuronal susceptibility to oxidative damage may account for the neurotoxicity observed in cases of GSS resulting from PrP D202N mutation.
|
17873292 |
2007 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic study of over 200 cases of Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease (GSS), fatal familial insomnia (FFI), and kuru have brought a reliable body of evidence that the familial forms of CJD and all known cases of GSS and FFI are linked to germline mutations in the coding region of the PRNP gene on chromosome 20, either point substitutions or expansion of the number of repeat units.
|
7999318 |
1995 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gerstmann-Sträussler-Scheinker (GSS) disease is a prion disease associated with prion protein gene (PRNP) mutations.
|
20613639 |
2010 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To explore pathogenesis in a young Gerstmann-Sträussler-Scheinker Disease (GSS) patient, the corresponding mutation, an eight-residue duplication in the hydrophobic region (HR), was inserted into the wild type mouse PrP gene.
|
29338055 |
2018 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the prion protein (PrP) gene are present in patients with Gerstmann-Sträussler-Scheinker syndrome (GSS), familial Creutzfeldt-Jakob disease (CJD), and fatal familial insomnia (FFI).
|
7951257 |
1994 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Other amyloid proteins involved in familial CAAs include 1) the mutant cystatin C (ACys) in hereditary cerebral hemorrhage with amyloidosis of Icelandic type, 2) variant transthyretins (ATTR) in meningo-vascular amyloidoses, 3) mutated gelsolin (AGel) in familial amyloidosis of Finnish type, 4) disease-associated prion protein (PrP(Sc)) in a variant of the Gerstmann-Sträussler-Scheinker syndrome, and 5) ABri and ADan in CAAs observed in the recently described BRI2 gene-related dementias, familial British dementia and familial Danish dementia, respectively.
|
14533778 |
2003 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the linkage of mutations within the PRNP gene with phenotypic appearance of Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome points to importance of the PrP gene.
|
7922109 |
1994 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gerstmann-Sträussler-Scheinker syndrome belongs to the genetic prion diseases being associated with mutations in the prion protein gene (PRNP).
|
22211828 |
2012 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.
|
7699395 |
1994 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here a case of Gerstmann-Sträussler-Scheinker (GSS) disease with a new mutation at the codon 232 (Met to Thr) of the PRNP gene.
|
11693719 |
2000 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Reported is a proband with a novel PRNP mutation associated with neuropathologically confirmed Gerstmann-Sträussler-Scheinker disease displaying a somewhat unusual constellation of clinicopathological features, which overall subserve to further broaden an already diverse phenotypic spectrum.
|
23857164 |
2013 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
First, common pathogenic mutations of the PRNP gene in Gerstmann-Sträussler-Scheinker (GSS) syndrome were clustered at PrP95-105.
|
26528810 |
2016 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This PrP(Sc) rapidly degraded during laboratory analysis, suggesting that the difficulty in its detection in patients with GSS A117V could relate to post-mortem proteolysis.
|
24086135 |
2013 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
|
7783876 |
1995 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease with the P102L mutation.
|
22384235 |
2012 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Different PrP mutations cause different diseases, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker (GSS) syndrome and fatal familial insomnia (FFI).
|
26864450 |
2016 |