|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Presenilin 1 (PS1) mutations are responsible for a majority of early onset familial Alzheimer's disease (FAD) cases, in part by increasing the production of Abeta peptides.
|
19675248 |
2009 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Presenilin-1 (PS1) is a transmembrane protein that is in many cases responsible for the development of early-onset familial Alzheimer's disease.
|
19665542 |
2009 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Presenilin 1 (PS1) gene mutations are the major causes of early-onset familial Alzheimer's disease and are known to increase amyloid-beta42 (Abeta42) production as well as to promote apoptosis.
|
19276551 |
2009 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Presenilin 1 (PS1) gene mutations are the major causes of early-onset familial Alzheimer's disease.
|
19276550 |
2009 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We now report that transgenic mice that ubiquitously express human PS1 variants linked to early-onset familial Alzheimer's disease (FAD) neither exhibit EE-induced proliferation, nor neuronal lineage commitment of NPCs.
|
18760694 |
2008 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three rare forms of autosomal-dominant early-onset familial Alzheimer disease have been identified and are associated with mutations in amyloid precursor protein, presenilin 1, and presenilin 2 genes.
|
18414205 |
2008 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These observations suggest that although PSEN1 mutations are the most frequent cause, the MAPT R406W mutation is an important cause of early-onset familial dementia clinically diagnosed as AD.
|
18587238 |
2008 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the presenilin 1 gene cause most early onset familial Alzheimer's disease (FAD).
|
17169464 |
2008 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This is the first description of neuropathologic findings in EOFAD owing to N135S PSEN1 mutation.
|
18580586 |
2008 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The novel PSEN1 mutation identified in this patient adds to the diverse list of existing mutations causing EOFAD associated with spastic paraparesis.
|
17507029 |
2007 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease.
|
17594345 |
2007 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since its cloning in 1995, missense point mutations in presenilin I (PS-I) have been shown to be responsible for greater than 70% of the cases of early onset familial Alzheimer's disease (EOFAD), which can affect individuals as early as age 18.
|
17320044 |
2007 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Presenilin-1 gene mutations have been proven to be associated with the majority of early-onset familial Alzheimer's disease (FAD).
|
16916581 |
2006 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The varied ways in which mutations in presenilins (PSEN1 and PSEN2) affect amyloid b precursor protein (APP) processing in causing early-onset familial Alzheimer disease (FAD) are complex and not yet properly understood.
|
16752394 |
2006 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Early onset familial Alzheimer's disease (FAD) is linked to autosomal dominant mutations in the amyloid precursor protein (APP) and presenilin 1 and 2 (PS1 and PS2) genes.
|
16923170 |
2006 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes are associated with early-onset familial Alzheimer's disease (EOAD).
|
16546171 |
2006 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in presenilin 1 (PS1) lead to dominant inheritance of early onset familial Alzheimer disease (FAD).
|
16574645 |
2006 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The -22c/t polymorphism in presenilin 1 gene is not connected with late-onset and early-onset familial Alzheimer's disease in Poland.
|
15480851 |
2005 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CWPs have been observed in individuals affected by early-onset familial Alzheimer disease (FAD) associated with mutations in the presenilin 1 (PSEN1) gene.
|
16086583 |
2005 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the presenilin 1 (PSEN1) gene are known to cause nearly 50% of early-onset, familial Alzheimer's disease (AD) cases.
|
15003276 |
2004 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Many patients affected by early onset familial Alzheimer's disease (FAD), carry mutations in the presenilin 1 (PS1) gene.
|
15006708 |
2004 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Presenilin 1 (PS1) is linked to the pathogenesis of early onset familial Alzheimer's disease (FAD) and is localized at the synapse, where it binds N-cadherin and modulates its adhesive activity.
|
14515347 |
2003 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified two missense mutations in the coding sequence of the presenilin (PS-1) gene in two EOFAD pedigrees.
|
12885573 |
2003 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Early onset familial Alzheimer disease (FAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent.
|
11920851 |
2002 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we found a novel PSEN1 mutation in a large family with clinical and pathological diagnosis of early onset familial Alzheimer disease, which may be relevant for other Hispanic populations.
|
12484344 |
2002 |