Presenile dementia
|
0.400 |
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 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer's disease patients with presenilin 1 (PSEN1) mutations commonly show parkinsonism in addition to dementia.
|
31322578 |
2019 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the presenilin-1 (PSEN1) gene are the most common causes of dementia in these patients.
|
29466804 |
2018 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.
|
28532645 |
2017 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Participants from five families with early-onset autosomal-dominant mutations (Swedish and Arctic APP, PSEN1 M146V, H163Y, and I143T) included 35 carriers (28 without dementia and 7 with) and 44 non-carriers.
|
28079014 |
2017 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Oral administration of methysticin improves cognitive deficits in a mouse model of Alzheimer's disease.
|
28448946 |
2017 |
Presenile dementia
|
0.400 |
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 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
The BET-Bromodomain Inhibitor JQ1 Reduces Inflammation and Tau Phosphorylation at Ser396 in the Brain of the 3xTg Model of Alzheimer's Disease.
|
27117003 |
2016 |
Presenile dementia
|
0.400 |
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 |
Presenile dementia
|
0.400 |
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 |
Presenile dementia
|
0.400 |
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 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Protective Effect of Notoginsenoside R1 on an APP/PS1 Mouse Model of Alzheimer's Disease by Up-Regulating Insulin Degrading Enzyme and Inhibiting Aβ Accumulation.
|
25714973 |
2015 |
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 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Identification of the key molecules involved in chronic copper exposure-aggravated memory impairment in transgenic mice of Alzheimer's disease using proteomic analysis.
|
25352456 |
2015 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we report three novel PSEN1 mutations: Ile238_Lys239insIle, Ala246Pro and Ala164Val from patients who manifested in their twenties, forties and seventies, respectively, with variant clinical presentations of dementia.
|
26350633 |
2015 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings confirm the role of the PS1 Thr147Ile substitution in Alzheimer's disease and expand the clinical phenotype to include expressive aphasia and very early onset of dementia.
|
25812849 |
2015 |
Presenile dementia
|
0.400 |
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 |
Presenile dementia
|
0.400 |
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 |
Presenile dementia
|
0.400 |
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 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We describe here clinical and neuropathological features of a patient with dementia-parkinsonism from a family with a PSEN1 mutation (L420R).
|
22882713 |
2013 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The PSEN1 Gly206Ala mutation is notably frequent in unrelated Puerto Rican immigrants with dementia in Philadelphia.
|
23114514 |
2013 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Involvement of cerebellar and brainstem structures leading to functional decortication in addition to rapid progressive presenile dementia in this PSEN1 family may therefore indicate an epistatic effect of the p.A58V Cathepsin D variant on the deleterious course of this disease.
|
23415546 |
2013 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This novel presenilin-1 sequence variant cosegregated with early onset dementia in the proband and at least one other affected family member, and likely represents a mutation causing familial, early-onset Alzheimer's disease.
|
23123781 |
2012 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
The PSEN1 gene and other dementia-related gene mutations were screened.
|
22572737 |
2012 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
APP/PS1 transgenic mice treated with aluminum: an update of Alzheimer's disease model.
|
22507317 |
2012 |