|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We conclude that unlike the general population, neither PS-1 nor ACT polymorphisms appear to have a similar detrimental effect on dementia in DS.Am.J. Med.Genet.(Neuropsychiatr.Genet.)88:616-620, 1999.
|
10581479 |
1999 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease.
|
11030797 |
2000 |
|
Dementia
|
0.200 |
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 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A significant association of PS1 intron 8 polymorphism was found with degenerative dementias but not with vascular dementias (OR 2.50, 95% CI 1.27-5.00).
|
17627113 |
2007 |
|
Dementia
|
0.200 |
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 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.
|
18028191 |
2007 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel presenilin1 (PSEN1) mutation associated with dementia and spastic paraplegia in a family with five affected individuals is described.
|
19912322 |
2010 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The present case has two implications: (1) mutations of presenilin-1 have to be searched also in apparently sporadic cases of dementia beginning in the third decade of life; (2) as yet unidentified factors, besides the gamma-secretase complex, influence the phenotype of presenilin-1 mutations.
|
16388371 |
2005 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Participants with SAD met the criteria for dementia and were negative for the E280A presenilin 1 mutation.
|
10923058 |
2000 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we described a novel PSEN1 mutation that was associated with dementia and spastic paraplegia in a family with 5 affected individuals in three generations.
|
17507029 |
2007 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the presenilin-1 (PSEN1) gene are the most common causes of dementia in these patients.
|
29466804 |
2018 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Dementia
|
0.200 |
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 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The A79V mutation in PS1 can be associated with very late onset of dementia.
|
17615170 |
2007 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The SP phenotype in some PSEN1 AD pedigrees also appears to be associated with a delayed onset of dementia compared with affected individuals who present with dementia only, suggesting the existence of a protective factor in some individuals with SP.
|
17995932 |
2008 |
|
Dementia
|
0.200 |
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 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
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 |
LHGDN |
This clinical pattern and pathology expands the clinical spectrum of familial Alzheimer's disease and compel to include mutations of PSEN1 gene in the genetic study of subcortical dementia.
|
15469450 |
2004 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Alternative transcripts of presenilin-1 associated with frontotemporal dementia.
|
11973477 |
2002 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The PSEN1 Gly206Ala mutation is notably frequent in unrelated Puerto Rican immigrants with dementia in Philadelphia.
|
23114514 |
2013 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Molecular evidence of presenilin 1 mutation in familial early onset dementia.
|
11920851 |
2002 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recent suggestions that other loci are involved in dementia risk have been supported by findings of associations of genotypes at the alpha-1 antichymotrypsin (ACT) and presenilin-1 (PS-1) loci with AD.
|
9129727 |
1997 |
|
Dementia
|
0.200 |
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 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Presenilin-1 polymorphism in patients with Alzheimer's disease, vascular dementia and alcohol-associated dementia in Japanese population.
|
8947284 |
1996 |
|
Dementia
|
0.200 |
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 |