|
rs63750231
|
|
|
0.030 |
GeneticVariation |
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 |
|
rs63750231
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Clinical deterioration can be detected as measurable cognitive impairment around two decades before dementia onset in PSEN1 E280A carriers.
|
21296022 |
2011 |
|
rs63750231
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Individuals designated as FAD met the criteria for dementia and were positive for the E280A presenilin 1 mutation.
|
10923058 |
2000 |
|
rs17125721
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We describe a large Italian family, which we followed from January 2003 to January 2018, with the late-onset AD and the E318G variant, with the aim of assessing E318G-associated CSF or plasma biochemical changes in biomarkers of dementia.
|
30381075 |
2019 |
|
rs63749824
|
|
|
0.020 |
GeneticVariation |
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 |
|
rs765670175
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) </span>of the PSEN2 gene.
|
19073399 |
2008 |
|
rs63749824
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The A79V mutation in PS1 can be associated with very late onset of dementia.
|
17615170 |
2007 |
|
rs765670175
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The study provides support for the potential pharmacogenomic identification of N141I PS2 FAD cases that might preferentially benefit from inhibition of COX-2 during the progression of clinical dementia.
|
16331303 |
2006 |
|
rs17125721
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two patients with presenile dementia and personality change were found to carry the PSEN1 Glu318Gly polymorphism.
|
16216949 |
2005 |
|
rs63750083
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs63749835
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs63750004
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs112451138
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs63750907
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs63750082
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The PSEN1 Gly206Ala mutation is notably frequent in unrelated Puerto Rican immigrants with dementia in Philadelphia.
|
23114514 |
2013 |
|
rs63750802
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe here clinical and neuropathological features of a patient with dementia-parkinsonism from a family with a PSEN1 mutation (L420R).
|
22882713 |
2013 |
|
rs63751032
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe here clinical and neuropathological features of a patient with dementia-parkinsonism from a family with a PSEN1 mutation (L420R).
|
22882713 |
2013 |
|
rs63750687
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The EOAD phenotype caused by the novel L381V mutation in the PSEN1 gene presented clinically, by a very early onset in the proband, rapid progression of dementia, spastic paraparesis, and extrapyramidal signs, as atypical clinical signs in Alzheimer's disease patients.
|
19797784 |
2010 |
|
rs63750324
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors describe four members of a family with a novel P284S presenilin 1 mutation presenting a clinical phenotype characterized by early-onset dementia, paratetraparesis, dysarthria, dysphagia, and marked involvement of brain white matter.
|
16401857 |
2006 |
|
rs63751068
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further clinical-genetic investigation showed a positive family history of FTD-like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder.
|
15122701 |
2004 |
|
rs63750444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.
|
12111359 |
2002 |
|
rs63751399
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.
|
11094121 |
2000 |
|
rs63751037
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Herein we report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 139 (M139V) of the PS-1 gene.
|
9728730 |
1998 |
|
rs63750900
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R269H PS1 mutation was associated with early age of dementia onset, higher amounts of total A beta and A beta x-42, and increased neuronal cytoskeletal changes.
|
9189043 |
1997 |