Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Prion protein (PrP) forms the fibrils or prion rods isolated from scrapie-infected brain and has been proposed as the major component of the infectious agent of this slowly progressive spongiform encephalopathy.
|
2895163 |
1988 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
These studies argue that amino acid substitutions in 'PrP' genes may modulate initiation and development of prion diseases.
|
2473558 |
1989 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
One of the five insertions was larger than that described previously, suggesting that the individuals with these mutations are unlikely to be all lineally related and that insertions in the PrP gene may not be uncommon in prion diseases.
|
1674696 |
1991 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Gerstmann-Sträussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p.
|
1672296 |
1991 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Despite the potential problems of using PrP gene analysis in genetic prediction - specifically, uncertainty about penetrance and, generally, problems of presymptomatic testing in any inherited late-onset neurodegenerative disorder - we conclude that it has a role to play in improved genetic counseling for families with inherited prion diseases.
|
1684089 |
1991 |
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
"Life, Jim, but not as we know it"? Transmissible dementias and the prion protein.
|
2054560 |
1991 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Fatal familial insomnia is a prion disease with a mutation in codon 178 of the PrP gene, but the disease phenotype seems to differ from that of previously described kindreds with the same point mutation.
|
1346338 |
1992 |
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
These results imply that the primary structures of PrP influence the phenotype of prion diseases, especially in abnormal PrP distributions of the central nervous system.
|
1353945 |
1992 |
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
The PrP or prion protein plays a key role in the pathogenesis of the transmissible spongiform encephalopathies.
|
8137132 |
1993 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Growth factors like NGF are known to increase the expression of PrP gene, a housekeeping gene which is responsible for susceptibility to transmissible spongiform encephalopathies.
|
7902706 |
1993 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Inherited forms of prion diseases are associated with mutations in the prion protein gene.
|
8364585 |
1993 |
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
PrP has a large repertoire of variant forms, and each primary structure of PrP corresponds to the distinct phenotype of prion diseases.
|
8461023 |
1993 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Two patients with symptoms characteristic of sporadic Creutzfeldt-Jakob disease were found to have inherited prion protein disease (PrP lysine 200), with a mutation at codon 200 of the prion protein gene.
|
8461647 |
1993 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Transgenic mouse studies are emphasized which verify that genetic forms of TSEs are linked to mutations in the host PrP gene and that the host species barrier to scrapie infection, scrapie incubation time and the distribution of neuropathology, which define scrapie prion isolates ('strains'), are determined by the structure of PrP.
|
8137126 |
1993 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
One case with a PrP gene mutation at codon 200 had severe SE but no amyloid.
|
8355811 |
1993 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
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 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Discovery of mutations in the PrP genes of humans with GSS and familial CJD established that prion diseases are both genetic and infectious.
|
8105771 |
1993 |
Prion Diseases
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.
|
8461023 |
1993 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
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 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Neuritic plaques characteristic of AD were once thought to be exclusively associated with beta-A4 amyloid; however, some pedigrees with familial prion disease produced neuritic plaques with PrP amyloid cores.
|
7904883 |
1993 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
This is the first report of the neuropathological changes associated with this particular abnormality of the PrP gene and it seems to demonstrate a transition between the pathology of prion disease and that of Alzheimer's disease.
|
8513392 |
1993 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
15% of prion diseases are autosomal dominant genetic disorders associated with mutations in the gene encoding the prion protein.
|
8100163 |
1993 |
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Thus, PrP accumulations may play a central role in the pathogenesis of prion diseases.
|
7913756 |
1994 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In Tg mice which express mutated PrP mimicking human prion protein gene mutations linked to familial prion diseases, the neuropathological changes have been faithfully reproduced.
|
7913760 |
1994 |
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Human prion diseases are characterized by the accumulation in the brain of an abnormal form of the prion protein.
|
7991124 |
1994 |