PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Pick Disease of the Brain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment. 16546171 2006
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Familial frontotemporal dementia associated with a novel presenilin-1 mutation. 12053127 2002
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia. 11094121 2000
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Alternative transcripts of presenilin-1 associated with frontotemporal dementia. 11997713 2002
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. 16948293 2006
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE We investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (APP), PSEN1/2, MAPT (microtubule-associated protein tau), fused in sarcoma (FUS), granulin (GRN) and TAR DNA-binding protein 43 (TDP-43)) to PD and PD plus dementia (PD+D) in a discovery sample of 376 individuals with PD and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency <5% in 975 individuals with PD, 93 cases with Lewy body disease on neuropathological examination, 613 individuals with Alzheimer's disease (AD), 182 cases with frontotemporal dementia and 1014 general population controls. 25604855 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Alternative transcripts of presenilin-1 associated with frontotemporal dementia. 11973477 2002
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease UNIPROT A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 15122701 2004
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism. 15622541 2005
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease LHGDN M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism. 15622541 2005
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline. 23948899 2013
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia. 19276543 2009
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease CLINVAR
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Mutations in presenilin-1 (PSEN1) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17). 17071927 2006
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 15122701 2004
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Genetic testing confirmed the absence of mutations in the presenilin 1 gene in 1 patient; subsequent testing revealed the R406W tau mutation in both individuals leading to a diagnosis of frontotemporal dementia [F]FDDNP retention broadly correlated with CSF levels of t-tau and p-tau. 20683187 2011
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE PRESENILIN1 (PSEN1) is the major locus for mutations causing familial Alzheimer's disease (FAD) and is also mutated in Pick disease of brain, familial acne inversa and dilated cardiomyopathy. 24101600 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies. 11914409 2002
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease CTD_human A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 15122701 2004
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease BEFREE DNA methylation was analyzed in selected regions of MAPT, APP, and PSEN1 in the frontal cortex and hippocampus of controls (n=26) and those with Alzheimer disease at Stages I to II (n=17); Alzheimer disease at Stages III to IV (n=15); Alzheimer disease at Stages V to VI (n=12); argyrophilic grain disease (n=10); frontotemporal lobar degeneration linked to tau mutations (n=6); frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions (n=4); frontotemporal lobar degeneration with motor neuron disease (n=3); Pick disease (n=3); Parkinson disease (n=8); dementia with Lewy bodies, pure form (n=5); and dementia with Lewy bodies, common form (n=15). 19606065 2009
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease GENOMICS_ENGLAND Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease GENOMICS_ENGLAND The genetics of Alzheimer disease. 23028126 2012
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease GENOMICS_ENGLAND Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161 2012
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease CTD_human M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism. 15622541 2005