Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 Biomarker disease BEFREE Plasma total prion protein as a potential biomarker for neurodegenerative dementia: diagnostic accuracy in the spectrum of prion diseases. 31216593 2019
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 Biomarker disease BEFREE Besides, CJD is commonly mistaken for other forms of dementia. 31734530 2019
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
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
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 Biomarker disease BEFREE It is clinically characterized by spastic paraparesis and dementia and histopathologically defined by PrP-plaques in the brain. 30240140 2018
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 Biomarker disease BEFREE Patients with an alternative diagnosis and those with sCJD were of similar age, sex and frequency of dementia but CJD mimics had a longer clinical history. 29142140 2018
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
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
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 GeneticVariation disease BEFREE We developed gene panel based technologies to assess 16 genes known to harbour mutations causal of dementia and combined these with PCR based assessments of the C9orf72 hexanucleotide repeat expansion and the octapeptide repeat region of PRNP. 23998997 2014
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
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
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
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
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 Biomarker disease BEFREE This new mutation extends the list of known pathogenic mutations responsible for genetic CJD, reinforces the clinical heterogeneity of the disease, and advocates for the inclusion of PRNP gene examination in the diagnostic workup of patients with poorly classifiable dementia, even in the absence of family history. 22763467 2013
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
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
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 Biomarker disease BEFREE There was a significant correlation between clinical symptoms and the neuroanatomical distribution of prion protein-immunoreactive aggregates, i.e. subtentorial predominance in ataxia vs cortical predominance in dementia. 22211828 2012
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 GeneticVariation disease BEFREE Genetic screening of the PRNP gene becomes of major importance in early onset autosomal dominant dementia. 21297264 2011
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
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
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
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
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
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
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 GeneticVariation disease BEFREE Genetic examination of the PRNP gene should be included in the workup of patients with poorly classifiable dementia. 20613639 2010
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 Biomarker disease GENOMICS_ENGLAND PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit. 20583301 2010
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
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
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 GeneticVariation disease LHGDN Novel PRNP mutation in a patient with a slow progressive dementia syndrome. 18443555 2008
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 GeneticVariation disease LHGDN A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings. 19010951 2008
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
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
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 Biomarker disease BEFREE Genetic examination of the PRNP should be included in the diagnostic work-up of patients with poorly classifiable dementia. 19030774 2008
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 Biomarker disease LHGDN The proband of a South African family presented with a rapidly progressive dementia and atypical pathology associated with kuru-like prion protein plaques. 17709704 2007
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.500 Biomarker disease GENOMICS_ENGLAND Childhood onset in familial prion disease with a novel mutation in the PRNP gene. 16831973 2006