|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We confirmed the 178Asn mutation in the PrP gene of a third FFI family of French ancestry.
|
8105681 |
1993 |
|
Fatal Familial Insomnia
|
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 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of PRNP in 32 family members revealed eleven carrying the D178N allele, including the two FFI patients.
|
20096809 |
2010 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genotypic basis for the difference between FFI and 178AsnCJD lies in a polymorphism at codon 129 of the mutant prion protein gene: 129Met 178Asn results in FFI, 129Val 178Asn in CJD.
|
7999319 |
1995 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results confirm the high sensitivity of IQ-CSF for detecting human prions with a sub-optimal sensitivity for the sporadic CJD subtypes MM2C and MM2T, and a low sensitivity limited to variant CJD, Gerstmann-Sträussler-Scheinker syndrome and fatal familial insomnia.
|
28878311 |
2017 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A broadening spectrum of human prion diseases has now been identified including novel entities such as Fatal Familial Insomnia and variants of CJD and GSS characterised by specific abnormalities in the human prion protein (PrP) gene on chromosome 20.
|
8841969 |
1996 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We characterize SSOs in a 51-year-old male with FFI carrying the D178N mutation and the methionine/methionine homozygosity at the polymorphic 129 codon of the PRNP gene and in eight gender and age-matched healthy controls.
|
22609023 |
2012 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The authors present clinical, sleep, and neuroendocrine features of a patient with genetically confirmed fatal familial insomnia (D178N mutation with heterozygosity at codon 129 of the prion protein gene).
|
15623717 |
2004 |
|
Fatal Familial Insomnia
|
1.000 |
Biomarker
|
disease |
BEFREE |
It has been suggested that the clinical and pathological difference between FFI and CJD is caused by different conformations of the prion protein.
|
15739202 |
2005 |
|
Fatal Familial Insomnia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Hence, only the glycosylated forms of PrPM reach the cell surface whereas the unglycosylated PrPM is also under-represented in the brain of FFI patients validating the cell model.
|
8647879 |
1996 |
|
Fatal Familial Insomnia
|
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 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP).
|
12815603 |
2003 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fatal familial insomnia (FFI) is a special subtype of genetic human prion diseases that is caused by the D178N mutation of the prion protein gene (PRNP).
|
23430483 |
2013 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in the Prion protein (PrP), encoded by the <i>PRNP</i> gene, have been associated with autosomal dominant neurodegenerative disorders, such as Creutzfeldt-Jacob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and Fatal Familial Insomnia (FFI).
|
31340582 |
2019 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The D178N mutation in the PRNP gene is associated with fatal familial insomnia and Creutzfeldt-Jakob disease (CJD).
|
25220284 |
2015 |
|
Fatal Familial Insomnia
|
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 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Does the prion protein gene 129 codon polymorphism influence sleep? Evidence from a fatal familial insomnia kindred.
|
12464332 |
2002 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Prion mutation D178N with highly variable disease onset and phenotype.
|
19228673 |
2009 |
|
Fatal Familial Insomnia
|
1.000 |
Biomarker
|
disease |
BEFREE |
We analyzed 128 suitable frontal cortex samples, from prion-affected patients (variant Creutzfeldt-Jakob disease (vCJD) n = 20, iatrogenic CJD (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Sträussler-Scheinker syndrome (GSS)) n = 4), patients with Alzheimer disease (AD, n = 14) and age-matched controls (n = 30).
|
29142239 |
2017 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fatal familial insomnia (FFI) is an autosomal dominant disease linked to a mutation in the prion protein gene.
|
14732629 |
2004 |
|
Fatal Familial Insomnia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Collectively, our novel data are indicative of the spontaneous formation of a PrP-dependent neurotoxic phenotype in FFI- or CJD-PrP transgenic <i>Drosophila</i> and show that inherited human prion disease can be modelled in this invertebrate host.
|
28814578 |
2017 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We used [18F]-2-fluoro-2-deoxy-D-glucose (FDG) and PET to study regional cerebral glucose utilization in seven patients with fatal familial insomnia (FFI), an inherited prion disease with a mutation at codon 178 of the prion protein gene.
|
9222180 |
1997 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We used [18F]2-fluoro-2-deoxy-D-glucose ([18F]FDG) and positron emission tomography (PET) to study regional cerebral glucose utilization (rCMRglc) in four patients with fatal familial insomnia (FFI), a prion disease with a mutation at codon 178 of the prion protein gene.
|
8255458 |
1993 |
|
Fatal Familial Insomnia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The pattern of PrP(Sc) deposition in the brains of Tg mice was similar to that caused by sCJD but different from that associated with fCJD(E200K) or FFI.
|
11756597 |
2001 |