Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Wnt effectors were tightly clustered with presenilin1 (PSEN1) and granulin (GRN), which cause dominantly inherited forms of Alzheimer's disease and frontotemporal dementia (FTD), respectively.
|
21971039 |
2011 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted.
|
26159191 |
2015 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (APP), PSEN1/2, MAPT (microtubule-associated protein tau), fused in sarcoma (FUS), granulin (GRN) and TAR DNA-binding protein 43 (TDP-43)) to PD and PD plus dementia (PD+D) in a discovery sample of 376 individuals with PD and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency <5% in 975 individuals with PD, 93 cases with Lewy body disease on neuropathological examination, 613 individuals with Alzheimer's disease (AD), 182 cases with frontotemporal dementia and 1014 general population controls.
|
25604855 |
2015 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the clinical features of the Kluver-Bucy syndrome and FTD can be associated with PSEN1 mutations.
|
12053127 |
2002 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We also propose that PSEN1 mutations should be considered in FTD patients with no MAPT mutations.
|
16546171 |
2006 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.
|
24773620 |
2014 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Transgenic mice expressing the PS1-A246E mutation: effects on spatial learning, exploration, anxiety, and motor coordination.
|
12493631 |
2003 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
|
23843529 |
2013 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16).
|
23885714 |
2013 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.
|
7550356 |
1995 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.
|
17197420 |
2007 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.
|
27073747 |
2016 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.
|
10468510 |
1999 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of Alzheimer disease.
|
23028126 |
2012 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.
|
24217025 |
2014 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.
|
11094121 |
2000 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
CTD_human |
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.
|
11094121 |
2000 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.
|
11094121 |
2000 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families.
|
16897084 |
2006 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD.
|
23489366 |
2013 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
The 3 × Tg-AD mouse simultaneously expresses 3 rare familial mutant genes that in humans independently produce devastating amyloid-β protein precursor (AβPP), presenilin-1, and frontotemporal dementias; hence, technically speaking, these mice are not a model of sporadic AD, but are informative in assessing co-evolving amyloid and tau pathologies.
|
21860086 |
2011 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia.
|
19276543 |
2009 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.
|
11524469 |
2001 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
|
22312439 |
2012 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
|
28664294 |
2017 |