Mental deterioration
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
These results suggest that phenotypes for onset and rate of cognitive decline vary with PSEN1 and APP genes, suggesting a behavioral heterogeneity in ADAD.
|
31386938 |
2019 |
Mental deterioration
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The second case had a PSEN1 M233V mutation with an earlier age of onset of 25 with cognitive decline, parkinsonism, and epilepsy.
|
30814350 |
2019 |
Mental deterioration
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the presenilin 1 (PS1) gene are a major trigger of familial Alzheimer's disease (AD), yet the mechanisms affected by mutated PS1 causing cognitive decline are not yet elucidated.
|
31467635 |
2019 |
Mental deterioration
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
In an Alzheimer's model using 5×FAD mice, intake of the WY peptide also suppressed microglial inflammation and accumulation of Aβ, which improved cognitive decline.
|
31121563 |
2019 |
Mental deterioration
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we report a 37-year-old male Korean patient carrying a PSEN1 p.Gly417Ala mutation with exceptionally early and severe presentations, including a wide range of atypical symptoms of rapid cognitive decline with a stooped posture, rigidity, and bradykinesia.
|
30180983 |
2018 |
Mental deterioration
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Reversal of high fat diet-induced obesity improves glucose tolerance, inflammatory response, β-amyloid accumulation and cognitive decline in the APP/PSEN1 mouse model of Alzheimer's disease.
|
28108292 |
2017 |
Mental deterioration
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
In this study, we investigated the effect of T4 on cognitive decline and synaptic plasticity in five times familial AD (5XFAD) mice co-expressing mutated amyloid precursor protein and presenilin-1.
|
25661995 |
2015 |
Mental deterioration
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The PSEN1 F177S mutation leads to typical AD starting at age 30 and a homogeneous phenotype with rapid cognitive decline and prominent neurological symptoms.
|
23850332 |
2014 |
Mental deterioration
|
0.200 |
GeneticVariation
|
phenotype |
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 |
Mental deterioration
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
This is the first report of PSEN1 mutation (Gly206Asp) with features of seizure and a rapid progressive cognitive decline in a pathologically confirmed case of FAD.
|
21335660 |
2011 |
Mental deterioration
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
In this review we present how studies using PS1 transgenic mice have raised new questions related to pathological mechanisms of AD and are useful models for the study of (1) progressive cognitive decline, (2) early-occurring synaptic dysfunction, and (3) mechanisms other than amyloidogenesis that can be involved in disease pathogenesis.
|
21086758 |
2010 |
Mental deterioration
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
PSEN1 polymorphisms alter the rate of cognitive decline in sporadic Alzheimer's disease patients.
|
18403054 |
2009 |
Mental deterioration
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Cognitive decline in patients with familial Alzheimer's disease associated with E280a presenilin-1 mutation: a longitudinal study.
|
10923058 |
2000 |
Mental deterioration
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
The observation that PS-1 and PS-2 are highly expressed in neurons, localized to the endoplasmic reticulum, suggests that the presenilins could regulate neuronal K+ channel expression; mutations in PS-1/PS-2 would then be expected to result in profound changes in neuronal excitability and contribute to the cognitive decline commonly associated with Alzheimer's Disease.
|
9666479 |
1998 |
Mental deterioration
|
0.200 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Mental deterioration
|
0.200 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|