Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype.
|
21297264 |
2011 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies.
|
11914409 |
2002 |
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 |
Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline.
|
23948899 |
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 |
Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation.
|
15122701 |
2004 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing confirmed the absence of mutations in the presenilin 1 gene in 1 patient; subsequent testing revealed the R406W tau mutation in both individuals leading to a diagnosis of frontotemporal dementia [F]FDDNP retention broadly correlated with CSF levels of t-tau and p-tau.
|
20683187 |
2011 |
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 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that alternative transcription of PS1 may be associated with FTD.
|
11997713 |
2002 |
Frontotemporal dementia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that alternative transcription of PS1 may be associated with FTD.
|
11973477 |
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 |
GeneticVariation
|
disease |
BEFREE |
Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations.
|
16948293 |
2006 |
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 |
GeneticVariation
|
disease |
BEFREE |
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.
|
11094121 |
2000 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in presenilin-1 (PSEN1) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17).
|
17071927 |
2006 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease.
|
20145736 |
2010 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.
|
22461631 |
2012 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling.
|
20484632 |
2010 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins.
|
17545141 |
2007 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
|
27206484 |
2016 |