|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, contrary to exclusively inherited GSS, no prion protein (PrP) gene variations have been detected in VPSPr, suggesting that VPSPr might be the long-sought sporadic form of GSS.
|
25418590 |
2014 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel prion disease associated with diarrhea and autonomic neuropathy.
|
24224623 |
2013 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
The prionopathies [Kuru, Creutzfeldt-Jakob disease (CJD) and its variants, Gerstmann-Sträussler-Scheinker (GSS) syndrome and fatal familial insomnia (FFI)] result from accumulation of abnormal isoforms of the prion protein in the brains of normal animals on both neuronal and non-neuronal cells.
|
24141515 |
2013 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel prion disease associated with diarrhea and autonomic neuropathy.
|
24224623 |
2013 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders.
|
22965875 |
2012 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient.
|
21760536 |
2011 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The phenotypic and strain-related properties of human prion diseases are, according to the prion hypothesis, proposed to reside in the physicochemical properties of the conformationally altered, disease-associated isoform of the prion protein (PrP(Sc)), which accumulates in the brains of patients suffering from Creutzfeldt-Jakob disease and related conditions, such as Gerstmann-Straussler-Scheinker disease.
|
20844046 |
2010 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
However, the characteristics of the abnormal prion protein suggest that VPSPr is different from typical prion diseases, and perhaps more akin to subtypes of Gerstmann-Sträussler-Scheinker disease.
|
20695009 |
2010 |
|
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 |
Biomarker
|
disease |
BEFREE |
PET of brain prion protein amyloid in Gerstmann-Sträussler-Scheinker disease.
|
19725833 |
2010 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
|
19927125 |
2010 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Furthermore, these results indicate that the anti-Bax function is also disrupted in GSS-associated PrP mutants and is not associated with the difference between CJD and GSS.
|
19680558 |
2009 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Overall, Tg(A116V) mice recapitulate many clinicopathologic features of GSS(A117V) that are distinct from CJD, supporting PrP(A116V) to carry specific phenotypic information.
|
19675240 |
2009 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis.
|
19443103 |
2009 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.
|
18566986 |
2008 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The unusual phenotype and PrP(Sc)-type distinguishes this genetic prion disease from typical Gerstmann-Sträussler-Scheinker syndrome and other codon 105 substitutions, suggesting that, in addition to the loss of proline at this position, the PrP(Sc) conformation and phenotype is dependent on the specific amino acid substitution.
|
18955686 |
2008 |
|
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 |
Biomarker
|
disease |
BEFREE |
Neuropathologic examination revealed multicentric, prion protein-positive, amyloid plaques as typically seen in Gerstmann-Sträussler-Scheinker syndrome.
|
17353478 |
2007 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits.
|
16825951 |
2006 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Report on the first Chinese family with Gerstmann-Sträussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene.
|
17080720 |
2006 |