Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt-Jakob disease (CJD).
|
8520719 |
1995 |
Dementia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here, we describe one of these cases and stress the importance of genetic screening of PRNP in early onset dementia cases.
|
19571725 |
2010 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Routine clinical assessment and sequence analysis of the PrP gene of DNA from a 56 year old Japanese man with progressive dementia syndrome.
|
12023426 |
2002 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we screened the PRNP gene to evaluate the frequency of PRNP mutations and their correlations with clinical phenotype in 185 sporadic neurodegenerative dementia cases and 310 control subjects.
|
18425766 |
2008 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We present the clinical and neuropathological features of a family with an early and long-standing dementia manifesting with posterior cortical atrophy and related to a 120 bp insertional mutation of the prion protein gene.
|
21959360 |
2013 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This case supports the pathogenicity of the T188 PRNP mutation, demonstrates the variability of clinical phenotypes associated with certain mutations, and emphasizes the importance of testing for genetic prion disease in cases of apparently sporadic atypical dementia.
|
21107135 |
2010 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Three members of a Basque family carrying a novel six R2 octapeptide repeat 144-bp insertion in the prion protein gene (PRNP) showed a slowly progressive dementia associated with cerebellar signs, myoclonic jerks, and seizures.
|
9222181 |
1997 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening of the PRNP gene becomes of major importance in early onset autosomal dominant dementia.
|
21297264 |
2011 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Novel PRNP mutation in a patient with a slow progressive dementia syndrome.
|
18443555 |
2008 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gerstmann-Sträussler-Scheinker syndrome caused by the P102L mutation in the prion protein gene (GSS102) is usually characterized by the onset of slowly progressive cerebellar ataxia, with dementia occurring much later.
|
28131204 |
2017 |
Dementia
|
0.500 |
Biomarker
|
disease |
BEFREE |
A growing list of phenotypes associated with prion protein loss are coincident with symptoms of neurodegenerative disease and dementia, though it remains contentious whether any such disruption of prion protein function contributes to disease aetiology.
|
29803646 |
2018 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This variant GSS with codon 105 mutation has been found in four pedigrees, only in Japan up to the present, and the clinicopathological phenotype is summarized as follows: (1) onset at age 38-48, with a duration of 7-11 years, (2) prominent spastic paraparesis, associated with dementia and ataxia, (3) numerous amyloid plaques in the cerebral cortex, (4) amorphous PrP deposits with neuronal loss in the deep cortical layers, and (5) minor change of cerebellum.
|
7699395 |
1994 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Screening for mutations in the PRNP gene should be performed in all diagnosed cases of prion disease and in cases of familial occurrence of early onset dementia of unknown aetiology.
|
23319218 |
2013 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
On the basis of detecting an insertion in the ORF of the PrP gene in a patient originally suspected to be suffering from familial Alzheimer-type dementia, we screened 101 individuals with atypical dementias for the known PrP gene mutations.
|
1674696 |
1991 |
Dementia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Investigation of these patients, including two with neuropathologically verified AD and one with post-mortem confirmed CJD, did not reveal an alternative aetiology for their dementia.
|
14991353 |
2004 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia.
|
16025285 |
2005 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings.
|
19010951 |
2008 |
Dementia
|
0.500 |
Biomarker
|
disease |
LHGDN |
In this study, we screened the PRNP gene to evaluate the frequency of PRNP mutations and their correlations with clinical phenotype in 185 sporadic neurodegenerative dementia cases and 310 control subjects.
|
18425766 |
2008 |
Dementia
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Dementia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The APOBEC-related mutations were higher in healthy controls than in cases suffering from neurodegeneration, with the exception of the dementia group with the prion protein gene (PRNP) MV genotype.
|
21218337 |
2011 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series.
|
21193246 |
2012 |
Dementia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Finally, a rare phenotype characterized by progressive dementia was linked to PrP(Sc) type 1 and valine homozygosity.
|
10443888 |
1999 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A two-octapeptide repeat deletion of the prion protein gene has been recently observed in a patient with a 2-year history of dementia and a clinical diagnosis of possible Creutzfeldt-Jakob disease (CJD).
|
12451210 |
2002 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-Scheinker syndrome P102L mutation complicated with dementia.
|
12200619 |
2002 |
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We studied whether codon 129 polymorphism of the PrP gene modulates the presence of tau- and Abeta-associated lesions among 188 patients over 70 years of age without evidence of dementia.
|
12679875 |
2003 |