|
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 |
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 |
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 |
The A79V mutation in PS1 can be associated with very late onset of dementia.
|
17615170 |
2007 |
|
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 |
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 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 |
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 |
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 |
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 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 |
Biomarker
|
disease |
LHGDN |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Serial examinations, PET scans, and autopsy revealed that the mutation in this highly conserved portion of PS1 causes an aggressive dementia that maintains the usual regional hierarchy of disease pathology while extending abnormalities into more widespread brain areas than typically seen in AD.
|
15159497 |
2004 |
|
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 |
Biomarker
|
disease |
BEFREE |
A diagnosis of probable Alzheimer disease was given, and the patient and his family were counseled on the availability of presenilin 1 testing, although there was no known family history of dementia.
|
14967768 |
2004 |
|
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 |
LHGDN |
Serial examinations, PET scans, and autopsy revealed that the mutation in this highly conserved portion of PS1 causes an aggressive dementia that maintains the usual regional hierarchy of disease pathology while extending abnormalities into more widespread brain areas than typically seen in AD.
|
15159497 |
2004 |
|
Dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
In conclusion, (1) a frontal lobe syndrome-like personality change may be one of the characteristic clinical features of early-onset CWP-AD, (2) the deposition pattern of Abeta40 and Abeta42 in CWP-AD is more variable than that of presenilin-1-linked cases, (3) Abeta deposition can result in development of dementia without tau pathology, and (4) CWP-AD with LBs and several other neurodegenerative disorders with LBs share a common process involving alpha-synuclein and NAC deposition.
|
12883830 |
2003 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The frequency of PS1 mutations was 11% (5 of 55) in the whole sample of the patients with EOAD or 50% (3 of 6) if the analysis was restricted to familial cases with a positive history of dementia in the patient's family.
|
12817569 |
2003 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Alternative transcripts of presenilin-1 associated with frontotemporal dementia.
|
11973477 |
2002 |
|
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 |
Molecular evidence of presenilin 1 mutation in familial early onset dementia.
|
11920851 |
2002 |
|
Dementia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease.
|
11836371 |
2002 |