|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Psychiatric manifestations including psychosis are common in the early phase of CJD and it has therefore been hypothesized that the prion protein could be involved in psychotic disorders.
|
16949098 |
2007 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
However, sensitivity was lower in CJD types linked to abnormal prion protein (PrP<sup>Sc</sup>) type 2 (VV2, MV2K and MM2C) than in typical CJD (MM1).
|
28205010 |
2017 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease.
|
11840201 |
2001 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To report two members of the same family carrying the valine to isoleucine point mutation of the prion protein gene (PRNP) and presenting with visual symptoms as initial manifestation as in the "Heidenhain variant" of sporadic Creutzfeldt-Jakob disease (CJD).
|
26268049 |
2016 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease.
|
27310471 |
2016 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Repetitive octapeptide insertions of variable length in the PRNP gene are also associated with spongiform encephalopathies, mostly familial Creutzfeldt-Jakob disease (CJD).
|
8750875 |
1995 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a 76-year-old Chinese man with CJD found to have a novel mutation in the prion protein gene (PRNP).
|
23787189 |
2014 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cases of familial Creutzfeldt-Jakob disease (CJD) with mutations in the PRNP gene were analyzed for distinctive clinico-pathological and experimental transmission characteristics.
|
1684754 |
1991 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Codon 129 polymorphism and the E200K mutation do not affect the cellular prion protein isoform composition in the cerebrospinal fluid from patients with Creutzfeldt-Jakob disease.
|
20529115 |
2010 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease.
|
12677444 |
2003 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe 2 patients of Jewish Libyan descent, who presented with a clinical syndrome compatible with Creutzfeldt-Jakob disease and who were found to have a mutation of codon 200 in the prion protein.
|
1362595 |
1992 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Notably, mice expressing only PrP V127 were completely resistant to all prion strains, demonstrating a different molecular mechanism to M129V, which provides its relative protection against classical CJD and kuru in the heterozygous state.
|
26061765 |
2015 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The delayed onset of CJD has complicated the analysis of inherited forms of the illness and led to the suggestion that mutations in the prion protein (PrP) gene are necessary but not sufficient for prion disease despite genetic linkage; indeed, an environmental factor such as a ubiquitous virus has been proposed as a second necessary factor.
|
8529127 |
1995 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
MGD |
Humanized knock-in mice expressing chimeric prion protein showed varied susceptibility to different human prions.
|
14633630 |
2003 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the prion protein gene in Creutzfeldt-Jakob disease in Jewish patients of Libyan, Greek, and Tunisian origin.
|
1685643 |
1991 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Prion protein (PrP) gene encodes cellular PrP (PrPC), a glycosylphosphatidylinositol (GPI)-anchored cell membrane protein indispensable for infections of prion, which causes Creutzfeldt-Jakob disease (CJD) in humans, bovine spongiform encephalopathy (BSE) in cattle, and scrapie in sheep.
|
20158453 |
2010 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We performed prion protein gene (PRNP) coding sequence analysis in 57 French subjects with Creutzfeldt-Jakob disease (CJD) and found a mutation of the PRNP coding sequence in nine subjects (15.8%); the mutation corresponded with a known family history of CJD in only three of these subjects.
|
7991124 |
1994 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic studies disclosed a new G-to-A mutation in codon 178 of the PRNP gene (resulting in a substitution of asparagine for aspartic acid) in the DNA of eight family members with CJD but not in any of ten currently healthy first degree relatives of the patients, or 86 controls.
|
1684756 |
1991 |
|
Creutzfeldt-Jakob disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Human prion protein with valine 129 prevents expression of variant CJD phenotype.
|
15539564 |
2004 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
LHGDN |
The central event in the pathogenesis of prion diseases, a group of fatal, transmissible neurodegenerative disorders including Creutzfeldt-Jakob disease (CJD) in humans, is the conversion of the normal or cellular prion protein (PrPC) into the abnormal or scrapie isoform (PrPSc).
|
12917418 |
2003 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
While PrP(C) conversion is thought to be random in sCJD, conversion in fCJD is facilitated by the congenital presence of mutated PrP.
|
16314483 |
2005 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Unexpected new genetic mechanisms have been discovered in human neurologic diseases, including (a) identical mutations of the prion protein gene in Creutzfeldt-Jakob disease and fatal familial insomnia with the phenotypic expression directed by an accompanying polymorphism; (b) stable duplications of chromosome 17 in Charcot-Marie-Tooth disease (type 1A) that involve many genes, only one of which appears to cause neuropathy; and (c) highly variable, dynamic mutations in myotonic dystrophy, fragile X syndrome, and Kennedy's syndrome that modulate variable expressivity in multiple tissues.
|
8293721 |
1994 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The normal cellular function of the prion protein (PrP(C)), the causative agent of the transmissible spongiform encephalopathies such as Creutzfeldt-Jakob disease in humans, remains enigmatic.
|
17573534 |
2007 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis confirmed genetic CJD (PRNP E200K mutation).One month later, she became comatose.
|
23296137 |
2013 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the distribution of ADAM10 SNP genotypes and alleles did not differ between groups of patients based on genotype at the polymorphic codon 129 of the prion protein gene--the sole major genetic risk factor for CJD identified to date.
|
12782344 |
2003 |