|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutation within exon 17 at codon 717 of the beta-amyloid protein precursor (APP) gene is one cause of early onset familial Alzheimer's disease.
|
1791986 |
1991 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Following reports of mutations of codon 717 in exon 17 of the amyloid precursor protein (APP) gene in early-onset familial Alzheimer's disease, we screened exon 17 for new mutations in presenile dementia.
|
1307241 |
1992 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations within the beta-amyloid precursor protein (beta-APP) gene that cosegregate with early onset familial Alzheimer's disease (FAD) and hereditary cerebral hemorrhage with amyloidosis of the Dutch-type (HCHWA-D) have been reported.
|
8515875 |
1993 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutation at codons 670 and 671 of exon 16 of the amyloid precursor protein has recently been identified as a cause of early onset familial Alzheimer's disease.
|
8395665 |
1993 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated a C to T transition at base pair 2149 in the amyloid precursor protein gene in 41 Japanese cases of early-onset familial Alzheimer's disease (FAD), late-onset FAD and sporadic Alzheimer's disease (AD) by polymerase chain reaction and restriction enzyme polymorphism with BclI.
|
8410047 |
1993 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The specific association of rare amyloid precursor protein mutations with some kindreds with early-onset familial Alzheimer's disease suggests that specific abnormalities in amyloid precursor protein may contribute to the pathogenesis of Alzheimer's disease.
|
8154870 |
1994 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The identification of mutations in the amyloid precursor protein (APP) gene associated with the presence of early-onset familial Alzheimer disease (AD) raises the possibility of their practical clinical application, at least in some circumstances, in the diagnostic assessment for AD.
|
8060604 |
1994 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic investigations have identified a variety of mutations in the amyloid precursor protein gene that segregate with early-onset familial Alzheimer's disease and with hereditary cerebral hemorrhage with amyloid, Dutch type.
|
7582041 |
1995 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because mutations in exons 16 and 17 of the beta-amyloid precursor protein (beta APP) gene on chromosome 21 have been identified in patients with early-onset familial Alzheimer's disease and Dutch-type cerebrovascular amyloidosis, we searched for mutations of the same region in patients with familial inclusion body myopathy.
|
7654077 |
1995 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the beta APP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14.
|
7485234 |
1995 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, our data suggest that other novel EOFAD loci, in addition to APP and the presenilin genes, are involved in the aetiology of up to 50% of EOFAD cases.
|
9172170 |
1997 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the presenilin genes are associated with early onset familial Alzheimer's disease and lead to increased accumulation of beta A4 peptide, the proteolytic product of the amyloid precursor protein (APP).
|
9055862 |
1997 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the presenilin genes are associated with early onset familial Alzheimer's disease and lead to accumulation of beta-amyloid peptide in the brain of patients, suggesting that presenilin abnormalities induce pathological processing of amyloid precursor protein (APP) in Alzheimer's disease.
|
9344855 |
1997 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the amyloid precursor protein (APP) gene cause early-onset familial Alzheimer disease (AD) by affecting the formation of the amyloid beta (A beta) peptide, the major constituent of AD plaques.
|
9371838 |
1997 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In early-onset familial Alzheimer's disease (AD) pathogenic mutations have been found in the amyloid precursor protein (APP) gene and in the presenilin (PS)-1 and PS-2 genes.
|
9851443 |
1998 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
More than 40 missense mutations and a splice-site mutation in the presenilin 1 (PS-1) gene, two missense mutations of presenilin 2 (PS-2), and more than three missense mutations of amyloid precursor protein (APP) cosegregate with early onset familial Alzheimer's disease (FAD).
|
9804121 |
1998 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the amyloid precursor protein (APP) gene cause one form of early onset familial Alzheimer's disease (AD).
|
10963361 |
2000 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Swedish double mutation (KM670/671NL) of amyloid precursor protein (APPsw) is associated with early-onset familial Alzheimer's disease (FAD) and results in from three- to sixfold increased beta-amyloid production.
|
11288146 |
2001 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both APP and PS-1 are causal genes for early-onset familial Alzheimer's disease (AD) and their mutation effects on cerebral Abeta deposition in the senile plaques were examined in human brains of 29 familial AD (23 PS-1, 6 APP) cases and 14 sporadic AD cases in terms of Abeta40 and Abeta42.
|
11378241 |
2001 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the amyloid precursor protein (APP) gene are known as causative factors in the pathogenesis of early-onset familial Alzheimer's disease (FAD).
|
12059037 |
2002 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Early-onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP.
|
12112163 |
2002 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the presenilin-1 (PS1) gene cause early onset familial Alzheimer's disease (FAD) by a mechanism believed to involve perturbed endoplasmic reticulum (ER) function and altered proteolytic processing of the amyloid precursor protein.
|
12390529 |
2002 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
PDAPP transgenic mice overexpress a mutant form of human amyloid precursor protein under control of the platelet-derived growth factor promoter in CNS neurons that causes early onset, familial Alzheimer's disease in humans.
|
15987951 |
2005 |
|
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 |
GeneticVariation
|
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 |