|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
GSS may be more common than is currently realised; PrP gene analysis is potentially useful for diagnosis and genetic counselling in familial dementias and ataxias.
|
2567794 |
1989 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Variably protease-sensitive prionopathy (VPSPr), a recently described human sporadic prion disease, features a protease-resistant, disease-related prion protein (resPrP<sup>D</sup>) displaying 5 fragments reminiscent of Gerstmann-Sträussler-Scheinker disease.
|
30561322 |
2019 |
|
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 |
Biomarker
|
disease |
BEFREE |
These disorders include Creutzfeld-Jacob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), kuru, fatal insomnia (FI), and variable protease-sensitive prionopathy (VPSPr), all of which involve a conformational change of the normal cellular prion protein (PrPC) into the abnormal scrapie prion protein (PrPSc) through a posttranslational process during which PrPc acquires high β-sheet content.
|
26592824 |
2015 |
|
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 |
Biomarker
|
disease |
BEFREE |
This suggests that GSS is characterized by the presence PrP isoforms that can be partially cleaved to low molecular weight PrPres peptides.
|
9786248 |
1998 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Since no mutations of the structural PrP gene have been found in the Indiana family of GSS disease, it is conceivable that factors other than the primary structure of PrP play a crucial role in the process of amyloid formation and the development of clinical neurologic dysfunction.
|
1672107 |
1991 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The variant PrP was also present in the prion rod fraction in patients with GSS.
|
1671530 |
1991 |
|
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 |
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 |