|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Inherited prion diseases are caused by mutations in the gene which codes for prion protein (PrP), leading to proliferation of abnormal PrP isomers in the brain and neurodegeneration; they include Gerstmann-Sträussler-Scheinker disease (GSS), fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD).
|
16598479 |
2006 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
Biomarker
|
disease |
BEFREE |
A case of familial Creutzfeldt-Jakob disease associated with a 144 base pair insertion in the open reading frame of the prion protein gene is described.
|
7823070 |
1995 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Several polymorphisms of the prion protein gene are associated with the occurrence of familial Creutzfeldt-Jakob disease.
|
8138811 |
1993 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Inherited human prion diseases, such as fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD), are associated with autosomal dominant mutations in the human prion protein gene <i>PRNP</i> and accumulation of PrP<sup>Sc</sup>, an abnormal isomer of the normal host protein PrP<sup>C</sup>, in the brain of affected individuals.
|
28814578 |
2017 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
|
8909447 |
1996 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report the first Japanese case of familial Creutzfeldt-Jakob disease (CJD) with the heterozygous point mutation at codon 200 of the prion protein gene.
|
7906019 |
1994 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
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 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion.
|
10896268 |
2000 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Five PRNP missense mutations causing familial Creutzfeldt-Jakob disease (F-CJD) map to a helical region found in both PrP(C) and Dpl and result in amino acids identical to conserved residues in Dpl.
|
12459456 |
2002 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene.
|
11733840 |
2001 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease.
|
1357594 |
1992 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
There are coding mutations in the prion protein gene in familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker disease, and other phenotypes that make up the inherited prion diseases.
|
8618679 |
1996 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease.
|
11568919 |
2001 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.
|
10090891 |
1999 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20.
|
1469441 |
1992 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The present study investigates whether posttranslational modifications of cellular prion protein (PrP(C)) in the cerebrospinal fluid (CSF) of humans with prion diseases are associated with methionine (M) and/or valine (V) polymorphism at codon 129 of the prion protein gene (PRNP), scrapie prion protein (PrP(Sc)) type in sporadic Creutzfeldt-Jakob disease (sCJD), or PRNP mutations in familial Creutzfeldt-Jakob disease (fCJD/E200K), and fatal familial insomnia (FFI).
|
24360565 |
2014 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We now describe a subject with familial Creutzfeldt-Jakob disease, heterozygous for the pathogenic lysine (Lys) mutation at codon 200 and homozygous for Met at codon 129 of the PRNP gene, who was affected by severe insomnia.
|
8618678 |
1996 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
They are classified according to changes in the prion protein gene ( PRNP) or conventionally according to phenotype as Gerstmann-Sträussler-Scheinker disease (GSS), fatal familial insomnia (FFI), or familial Creutzfeldt-Jakob disease (fCJD).
|
12420099 |
2002 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.
|
10360778 |
1999 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A number of mutations have been demonstrated in the open reading frame (ORF) of the prion protein (PrP) gene in patients with familial Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.
|
1674696 |
1991 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the human Prnp gene, PRNP, cause inherited prion diseases such as familial Creutzfeldt-Jakob Disease.
|
11716303 |
2001 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We examined the frequency of the APOE alleles in patients with various forms of transmissible spongiform encephalopathies, or prion diseases, including sporadic and iatrogenic Creutzfeldt-Jakob disease; familial Creutzfeldt-Jakob disease associated with PRNP 178N/129V and 200K/129M point mutations and a 24-nucleotide repeat expansion; fatal familial insomnia caused by the 178N/129M mutation; Gerstmann-Sträussler-Scheinker disease associated with 102L/129M mutation; and kuru.
|
9710033 |
1998 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
Biomarker
|
disease |
BEFREE |
Nonsynonymous mutations in the human prion protein (HuPrP) gene contribute to the conversion of HuPrP(C) to HuPrP(Sc) and amyloid formation which in turn leads to prion diseases such as familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker disease.
|
23527686 |
2014 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
More than a dozen mutations in the prion protein gene that result in nonconservative amino acid substitutions segregate with the inherited prion diseases including familial Creutzfeldt-Jakob disease (CJD).
|
8105682 |
1993 |
|
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
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 |