Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report the clinical, neuropsychologic, imaging, genetic, and neuropathologic features of a patient with familial Creutzfeldt-Jakob disease, associated with a very rare PRNP mutation at T188R.
|
21107135 |
2010 |
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
Biomarker
|
disease |
CTD_human |
Snord 3A: a molecular marker and modulator of prion disease progression.
|
23349890 |
2013 |
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 |
CTD_human |
Copper reduction by copper binding proteins and its relation to neurodegenerative diseases.
|
12572668 |
2003 |
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 |