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 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 CausalMutation disease CLINVAR Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia. 23114514 2013
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 CausalMutation disease CLINVAR Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. 23843529 2013
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. 22312439 2012
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins. 22115042 2012
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase. 22461631 2012
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 CausalMutation disease CLINVAR Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation. 22766738 2012
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 CausalMutation disease CLINVAR Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro. 21373759 2011
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Presenilin/γ-secretase regulates neurexin processing at synapses. 21559374 2011
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 CausalMutation disease CLINVAR Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling. 20484632 2010
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes. 20634584 2010
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease. 20145736 2010
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 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 CausalMutation disease CLINVAR Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation. 18797263 2008
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1. 18580586 2008
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. 17553989 2007
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins. 17545141 2007
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism. 17288597 2007
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism. 17197420 2007
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