|
Fatal Familial Insomnia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Fatal Familial Insomnia
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.
|
1347910 |
1992 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.
|
1347910 |
1992 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene.
|
1439789 |
1992 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene.
|
1439789 |
1992 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Moreover, since selective thalamic dementia with the PrP 178Asn mutation and fatal familial insomnia share clinical and histopathologic features, we propose that they are the same disease.
|
1357593 |
1992 |
|
Fatal Familial Insomnia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Protease-resistant PrP was found in both patients with fatal familial insomnia, but the size and number of protease-resistant fragments differed from those in Creutzfeldt-Jakob disease.
|
1346338 |
1992 |
|
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 |
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 |
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 |
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 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies of over 200 cases of Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (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 24-nucleotide repeat units.
|
8041803 |
1994 |
|
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 |
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 |
The amyloid or prion protein (PrP) genotype showed features typically seen in FFI, with a 178Asn mutation and a 129Met polymorphism.
|
7783865 |
1995 |
|
Fatal Familial Insomnia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The comparative study of PrPres distribution in FFI homozygotes and heterozygotes at codon 129 has lead to the conclusion that the phenotypic differences observed between these two FFI patient populations may be the result of different rates of conversion of normal PrP into PrPres, at least in some brain regions.
|
7767490 |
1995 |
|
Fatal Familial Insomnia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Regional distribution of protease-resistant prion protein in fatal familial insomnia.
|
7611720 |
1995 |
|
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 |
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 |
Fatal familial insomnia (FFI) is a familial prion disease linked to a mutation of the prion protein gene.
|
8780067 |
1996 |
|
Fatal Familial Insomnia
|
1.000 |
Biomarker
|
disease |
BEFREE |
This case implies a worldwide distribution of FFI and also highlights the need for more aggressive clinical application of genomic analysis of the PrP gene and polysomnographic study in patients with insomnia and cognitive impairments.
|
8909448 |
1996 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fatal familial insomnia (FFI) has been exclusively associated with a pathogenic mutation at codon 178 in the PRNP gene coupled with methionine (Met) at codon 129.
|
8618678 |
1996 |
|
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 |
FFI is associated with an aspartic acid to asparagine mutation at codon 178 of the PrP gene (D178N) in conjunction with methionine at the codon 129 polymorphic site on the mutant allele (cis-129M).
|
9270595 |
1997 |