Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
After 10 days of empirical treatment with antiviral agents, the patient was eventually diagnosed with fCJD with M232R mutation based on the results of positivity for 14-3-3 protein, CSF PrP<sup>sc</sup> in real-time quaking-induced conversion assay and genetic test for PRNP gene.
|
30910549 |
2019 |
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial Creutzfeldt-Jakob disease (fCJD) results from inheritance of mutations in the prion protein gene.
|
27997483 |
2018 |
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
Biomarker
|
disease |
BEFREE |
The inherited prion protein (PrP) prion disorders, which include familial Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia, constitute ∼10%-15% of all PrP prion disease cases in humans.
|
28096244 |
2017 |
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 |
Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene.
|
26806765 |
2016 |
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The patient's family, unhappy with the vague diagnosis, researched prion disorders online and aggressively pursued causation and submitted frozen brain tissue from the mother to the National Prion Disease Surveillance Center, where testing revealed a previously described 5-octapeptide repeat insertion (5-OPRI) in the prion protein gene (PRNP) that is known to cause fCJD.
|
27929804 |
2016 |
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD.
|
25522698 |
2015 |
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Inherited prion diseases, including familial Creutzfeldt-Jakob disease (fCJD), are associated with mutations of the prion protein gene (PRNP).
|
25149502 |
2014 |
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 |
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 |
Biomarker
|
disease |
CTD_human |
Snord 3A: a molecular marker and modulator of prion disease progression.
|
23349890 |
2013 |
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
Biomarker
|
disease |
BEFREE |
Moreover, the rescuing effectiveness of PrP siRNAs was time-related, with the more efficient antagonism of the cytotoxicity of fCJD-associated PrP mutants occurring at the early stages after transfection.
|
21537833 |
2011 |
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Human familial forms of the disease are linked to specific mutations in the PrP gene, PRNP, and include Gerstmann-Strussler-Scheinker syndrome (GSS), familial Creutzfeldt-Jakob disease (fCJD), and fatal familial insomnia.
|
20806222 |
2010 |
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 |
GeneticVariation
|
disease |
BEFREE |
Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in the glycosylphosphatidylinositol signal peptide (GPI-SP) of the prion protein (PrP(C)) segregate with familial Creutzfeldt-Jakob disease (CJD).
|
18325785 |
2008 |
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The E200K mutation of the PRNP (prion protein) gene is the most common cause of familial Creutzfeldt-Jakob disease (fCJD), which has imaging and clinical features that are similar to the sporadic form.
|
18635614 |
2008 |
Creutzfeldt-Jakob Disease, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To report the clinical and neuropathological features in the first patient seen, to our knowledge, with familial Creutzfeldt-Jakob disease and an R208H mutation associated with a Val/Val homozygosity at codon 129 in the prion protein gene (PRNP) and a type 2 protease-resistant prion protein.
|
16533975 |
2006 |
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 |
GeneticVariation
|
disease |
BEFREE |
Diffusion-weighted MRI in familial Creutzfeldt-Jakob disease with the codon 200 mutation in the prion protein gene.
|
15850581 |
2005 |
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 |
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 |
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 |
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 |
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 |
Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease.
|
11568919 |
2001 |