|
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 |
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 |
Early onset familial Alzheimer disease (EOFAD) can be caused by mutations in genes for amyloid precursor protein, presenilin 1 (PSEN1), or presenilin 2 (PSEN2).
|
18580586 |
2008 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Early-onset familial Alzheimer disease (AD) is an autosomal dominant disorder caused by mutations in the amyloid precursor protein, presenilin 1 (PSEN1), or presenilin 2 gene.
|
23850332 |
2014 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Amyloid precursor protein gene (APP) duplications have been identified in screens of selected probands with early onset familial Alzheimer's disease (FAD).
|
21193246 |
2012 |
|
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 |
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 |
All known rare mutations in APP and the γ-secretase catalytic component, presenilin, which lead to increased amyloid βpeptide production, are responsible for early-onset familial Alzheimer's disease.
|
28152299 |
2017 |
|
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 |
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 |
Dominant missense mutation in the presenilins and the amyloid precursor protein (APP) cause early-onset familial Alzheimer's disease (FAD).
|
29619615 |
2019 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in APP and presenilin cause early onset familial Alzheimer's disease (FAD).
|
31625391 |
2019 |
|
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 |
Biomarker
|
disease |
BEFREE |
Genetic screening for mutations in PSEN1, PSEN2, and APP was conducted in a total of 32 families with clinical diagnoses of EOFAD from Mainland China.
|
24650794 |
2014 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we demonstrate that mutations in the transmembrane domain of APP causing aggressive early-onset familial Alzheimer's disease affect both γ- and ε-cleavage sites, by raising the Aβ42/40 ratio and inhibiting the production of AICD50-99, one of the two physiological APP intracellular domains (ICDs).
|
23907250 |
2013 |
|
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 |
Importantly, we demonstrate that rPS harboring mutations that cause early onset familial Alzheimer's disease (FAD) lead to elevations in the ratio of Aβ42 to Aβ40 peptides produced from a wild-type APP substrate and that rPS enhances the Aβ42/Aβ40 peptide ratio from FAD-linked mutant APP substrates, findings that are entirely consistent with the results obtained in in vivo settings.
|
21115843 |
2010 |
|
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 |
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 |
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 |
More than 30 different rare mutations, including copy number variants (CNVs), in the amyloid precursor protein gene (APP) cause early-onset familial Alzheimer disease (EOFAD), whereas the contribution of common APP variants to disease risk remains controversial.
|
22491860 |
2012 |
|
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 |
Biomarker
|
disease |
BEFREE |
Mutations in presenilin (PS) and amyloid precursor protein (APP) genes are a predominant cause for early-onset familial Alzheimer disease (AD).
|
19524115 |
2009 |
|
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 |
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 |