PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE Our aim was to clarify the genetic background of dementia in this cohort by analysing both known dementia-associated genes (APOE, APP, C9ORF72, GRN, PSEN1 and PSEN2) and searching for rare or novel segregating variants with exome sequencing. 29476165 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease BEFREE Some of these interesting genes, such as MAPT, CASP2, and PSEN2, are linked with important aspects of Alzheimer's disease, such as dementia, increase cell death, and deposition of amyloid-beta proteins in Alzheimer's disease brains. 27901073 2016
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE Interestingly, PSEN2 mutations appeared not only in AD patients but also in patients with other disorders, including frontotemporal dementia, dementia with Lewy bodies, breast cancer, dilated cardiomyopathy, and Parkinson's disease with dementia. 26203236 2015
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted. 26159191 2015
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE The associated region extends 120 kb encompassing 11 candidate genes.While AGER encodes a key receptor for amyloid-β protein, an analysis of network context based upon genes now confirmed to contribute to dementia risk (AβPP, PSEN1, PSEN2, CR1, CLU, PICALM, and APOE) suggested strong functional coupling to NOTCH4, with no significant coupling to the remaining candidates. 21297263 2011
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE In addition, a 58-year-old female with a 2 year course of cognitive decline and no family history of dementia has abnormal fludeoxyglucose-positron emission tomography imaging and a novel 2 base pair deletion in presenilin 2 at nucleotide 342/343, predicted to produce a frame-shift and premature termination. 20375137 2010
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE We describe an Italian family with hereditary dementia associated with a novel mutation in the presenilin 2 gene. 18427071 2008
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment. 18727676 2008
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE To our knowledge, this is the first German EOAD patient without a Volga-German ancestry and a positive family history for dementia carries the mutation PSEN-2 N141I. 19073399 2008
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE Mutations in genes directly associated with the amyloid cascade (APP, PSEN1, PSEN2) are present in less than 5% of the Alzheimer's disease population; however, the presence of the epsilon4 allele of the apolipoprotein E gene (APOE) represents a major risk factor for more than 40% of patients with dementia. 18078356 2007
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease CTD_human Beta-amyloid mediated nitration of manganese superoxide dismutase: implication for oxidative stress in a APPNLH/NLH X PS-1P264L/P264L double knock-in mouse model of Alzheimer's disease. 16651627 2006
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE Reduction of Ca2+ stores and capacitative Ca2+ entry is associated with the familial Alzheimer's disease presenilin-2 T122R mutation and anticipates the onset of dementia. 15755689 2005
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE Atypical dementia associated with a novel presenilin-2 mutation. 14681895 2003
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease CTD_human A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. 12925374 2003
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE AMY plaques are consistently present in familial AD due to presenilin-1 (PS-1), PS-2, and amyloid precursor protein mutations, and they can begin to accumulate before the emergence of dementia. 10636133 2000
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE The index case with the presenilin-2 mutation had late-onset dementia at age 73 years, died of an acute intracerebral hemorrhage, and pathologically showed severe amyloid angiopathy but only rare neuritic senile plaques and neurofibrillary tangles. 9450781 1998
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease BEFREE Missense mutations in two related genes, termed presenilin 1 (PS1) and presenilin 2 (PS2), cause dementia in a subset of early-onset familial Alzheimer's disease (FAD) pedigrees. 9354339 1997
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease CTD_human The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue. 9050898 1997