PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 Biomarker disease BEFREE The clinical features of the patient were analyzed, and the dead patient was examined by autopsy and the brain tissues were obtained for histopathological studies, and the blood samples from the patient and some of her familial members were collected for the sequencing of prion protein gene (PRNP). 26617725 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 Biomarker disease BEFREE The interaction of PrP(C) and mGluR5 is enhanced dramatically in the brains of familial AD transgenic model mice. 25148681 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE However, genetic screening of prion protein gene becomes relevant in familial degenerative dementia, particularly in geographical areas with high IPD prevalence. 25022973 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP) - located on the short arm of chromosome 20 - and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI). 24141515 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 Biomarker disease BEFREE This kindred has a unique combination of clinical and neuropathologic features associated with the largest base pair insertion identified to date in PRNP and underscores the need to consider familial prion disease in the differential diagnosis of a familial frontotemporal dementia-like syndrome. 21911696 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE Genetic variations of prion protein in humans and animals can alter susceptibility to both familial and infectious prion diseases. 21980292 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE The present study reported DWI results in cases of familial CJD with a V180I mutation (CJD180) in the prion protein gene as well as neurological findings. 20051687 2009
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE Although neurotoxicity in familial cases is believed to result from a spontaneous change in conformation of mutant prion protein (PrP) to the pathogenic PrP-scrapie (PrPSc) form, emerging evidence indicates otherwise. 17873292 2007
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE We report MRI findings with DWI, as well as with fluid-attenuated inversion recovery (FLAIR) and T1-weighted imaging (T1WI), in a case of familial CJD with a mutation at codon 200 of the prion protein gene. 15850581 2005
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE Although on the basis of only in vitro data, this study strongly suggests that polymorphism-dependent phenotypic variability of familial prion diseases may be linked to differences in biophysical properties of prion protein variants. 16313190 2005
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE Accumulation of an isoform of protease-resistant PrP fragment in FFI distinct from that found in a familial form of Creutzfeldt-Jakob disease with the same D178N mutation, shows the effect of the polymorphism at codon 129 of PRNP on phenotypic expression and the possibility of distinct prion "strains" with diverse pathological potential. 12849238 2003
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease. 12677444 2003
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 Biomarker disease BEFREE Prion protein glycotype analysis in familial and sporadic Creutzfeldt-Jakob disease patients. 10483920 1999
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 Biomarker disease BEFREE Prion protein gene (PRNP) analysis was performed to distinguish patients with familial forms of CJD. 9818868 1998
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 Biomarker disease BEFREE Prion protein NMR structure and familial human spongiform encephalopathies. 9751723 1998
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease 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
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE A polymerase chain reaction was used to amplify the open reading frame of the prion protein gene from DNA extracted from frozen brain tissue of five Israeli residents (four of Libyan and one of Greek origin) and two familial cases in Jews born in Greece and Tunisia who later emigrated to France. 1685643 1991
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 GeneticVariation disease BEFREE Despite their experimental transmissibility, missense and insertional mutations in the prion protein gene are associated with both GSS and familial CJD, demonstrating that the human familial cases are autosomal dominant diseases. 1677164 1991
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 Biomarker disease BEFREE The features of the familial and transmissible forms of the spongiform encephalopathies are associated with the prion protein which comprises the amyloid fibril deposits in these conditions. 2559163 1989