|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We assessed descendants of individuals with a mutation in presenilin 1 (PSEN1) that causes familial AD, with the aim of identifying distinct stages of clinical progression to AD dementia.
|
21296022 |
2011 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.
|
18024701 |
2007 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis of apolipoprotein E, alpha1-antichymotrypsin and presenilin-1 genes polymorphisms in dementia caused by normal pressure hydrocephalus in man.
|
9237487 |
1997 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that impaired calcium homeostasis and mitochondrial dysfunction in PS1-FAD PCs reduces their activity and contributes to motor coordination deficits prior to Aβ aggregation and dementia.
|
24569455 |
2014 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.
|
11094121 |
2000 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We recently reported on a novel PS1 mutation with the deletion of threonine at codon 440 (deltaT440) in a familial case diagnosed as having the neocortical type of dementia with LBs (DLB) and variant AD.
|
18045903 |
2007 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We report a 35 year-old male with childhood learning disability and early onset dementia who is homozygous for the A431E variant in the PSEN1 gene.
|
30716424 |
2019 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Three of 12 noncarriers (25%) from the PSEN1 A79V family are potential phenocopies as they also developed AD dementia (median age at onset, 76.0 years).
|
27454811 |
2016 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Given the absence of PSEN1, PSEN2 and APP causative variants, we investigated whether these 260 patients might be burdened with protein-modifying variants in 20 genes that were previously shown to cause other types of dementia when mutated.
|
26242991 |
2016 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Lifetime risk of dementia in early-onset FAD kindreds is consistent with an autosomal dominant inheritance model.
|
2314579 |
1990 |
|
Dementia
|
0.200 |
GeneticVariation
|
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 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We report a novel PSEN1 mutation (p.Thr147Pro) responsible for a sporadic early-onset dementia with prominent cerebellar symptoms, resembling a spinocerebellar syndrome.
|
24718101 |
2014 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Molecular evidence of presenilin 1 mutation in familial early onset dementia.
|
11920851 |
2002 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer's disease patients with presenilin 1 (PSEN1) mutations commonly show parkinsonism in addition to dementia.
|
31322578 |
2019 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dementia developed in 3 family members in this kindred at a mean age of 27 years; the proband had myoclonus, seizures, and rigidity, similar to findings in previously described kindreds with PSEN1 mutations.
|
16344340 |
2005 |
|
Dementia
|
0.200 |
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 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The distinctive clinical and MRI findings in the family studied extend the phenotypic spectrum of dementia associated with mutation of the PS1 gene.
|
16401857 |
2006 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The most common familial early onset dementia mutations are found in the genes involved in Alzheimer's disease; the amyloid precursor protein (APP) and the presenilin 1 and 2 (PSEN1 and 2) genes; the prion protein gene (PRNP) may be involved.
|
15258222 |
2004 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We compared neurons derived from induced pluripotent stem cell (iPSC) lines of patients with early-onset familial Alzheimer's disease (fAD), all caused by mutations in the PSEN1 gene; patients with late-onset sporadic Alzheimer's disease (sAD); and three control individuals without dementia.
|
29191219 |
2017 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We performed genetic and Spanish-language cognitive testing on 50 Mexican persons without dementia at risk for inheriting PSEN1 mutations.
|
16805926 |
2007 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Dementia, delusions and seizures: storage disease or genetic AD?
|
17718701 |
2007 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
We performed mutational analysis of APP, PSEN1, PSEN2, and MAPT in 10 Japanese families with early-onset dementia clinically diagnosed as probable Alzheimer's disease.
|
18587238 |
2008 |
|
Dementia
|
0.200 |
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 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to determine Consortium to Establish a Registry for Alzheimer's Disease (CERAD) Neuropsychological Assessment Battery total score diagnostic accuracy in the diagnosis of mild cognitive impairment (MCI) and dementia in familial Alzheimer's disease (FAD) with E280A mutation on presenilin-1 gene (PSEN1).
|
26478578 |
2016 |