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MAPT H1 Haplotype is Associated with Late-Onset Alzheimer’s Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium

Published on Sep 29, 2015in Journal of Alzheimer's Disease 3.70
· DOI :10.3233/JAD-150555
Pau Pastor31
Estimated H-index: 31
,
Fermin Moreno13
Estimated H-index: 13
+ 35 AuthorsPascual Sánchez-Juan28
Estimated H-index: 28
Cite
Abstract
Spanish Ministry of Science and Innovation SAF 2006-10126 (2006–2009) and SAF2010-22329-C02-01 (2011–2013) to P.P and by the UTE project FIMA to P.P. Grants from the Ministry of Science (SAF2010-15558) and CIBERNED. Agust´in Ruiz is supported by grant PI13/02434 (Accion Estrategica en Salud. Instituto de Salud Carlos III. Ministerio de Economia y Competitividad, Spain). Grant: Consolider (CSD2010-00045).
  • References (39)
  • Citations (15)
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References39
Newest
Published on Jan 1, 2016in Molecular Psychiatry 11.97
Genetic1
Estimated H-index: 1
(BU: Boston University)
APOE ɛ4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer's Project (IGAP) Consortium in APOE ɛ4+ (10 352 cases and 9207 controls) and APOE ɛ4- (7184 cases and 26 968 controls) subgroups as well as in the total sample testing for interaction between a single-nucleotide polymorphism (SNP) and APOE ɛ4 status. Suggestive associations (P<1 × 10-4) ...
85 Citations Source Cite
Published on Jan 1, 2014in Alzheimer's Research & Therapy
Mariet Allen15
Estimated H-index: 15
(Mayo Clinic),
Michaela Kachadoorian4
Estimated H-index: 4
(Mayo Clinic)
+ 28 AuthorsSiddharth Krishnan3
Estimated H-index: 3
(Mayo Clinic)
Introduction MAPT encodes for tau, the predominant component of neurofibrillary tangles that are neuropathological hallmarks of Alzheimer’s disease (AD). Genetic association of MAPT variants with late-onset AD (LOAD) risk has been inconsistent, although insufficient power and incomplete assessment of MAPT haplotypes may account for this.
44 Citations Source Cite
Published on Dec 1, 2013in Nature Genetics 25.45
Jean-Charles Lambert51
Estimated H-index: 51
(Pasteur Institute),
Carla A. Ibrahim-Verbaas17
Estimated H-index: 17
(EUR: Erasmus University Rotterdam)
+ 182 AuthorsGary W. Beecham30
Estimated H-index: 30
(UM: University of Miami)
Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide association studies (GWAS) in individuals of European ancestry. In stage 1, we used genotyped and imputed data (7,055,881 SNPs) to perform meta-analysis on 4 previously published GWAS data sets consisting of 17,008 Alzheimer's disease cases and 37,15...
1,524 Citations Source Cite
Published on Oct 8, 2013in Neurology 8.69
Pau Pastor31
Estimated H-index: 31
In this international collaborative study searching for genetic modifiers in familial frontotemporal dementia (FTD), van Blitterswijk et al.1 detected C9ORF72 repeat expansions in 1.8% of 217 North American and Italian families harboring progranulin ( GRN ) or microtubule-associated protein tau ( MAPT ) gene mutations. Since the GRN/MAPT mutations harbored by the families were different, it does not seem a mutation-specific effect. All double mutation carriers had an early disease onset, though ...
3 Citations Source Cite
Published on Jan 1, 2013in Nature Reviews Neurology 21.16
Dimitrije Krstic8
Estimated H-index: 8
,
Irene Knuesel29
Estimated H-index: 29
Despite tremendous investments in understanding the complex molecular mechanisms underlying Alzheimer disease (AD), recent clinical trials have failed to show efficacy. A potential problem underlying these failures is the assumption that the molecular mechanism mediating the genetically determined form of the disease is identical to the one resulting in late-onset AD. Here, we integrate experimental evidence outside the 'spotlight' of the genetic drivers of amyloid-β (Aβ) generation published du...
238 Citations Source Cite
Published on Jan 1, 2013in Alzheimer Disease & Associated Disorders 2.38
Suzee E. Lee17
Estimated H-index: 17
(UCSF: University of California, San Francisco),
Maria Carmela Tartaglia26
Estimated H-index: 26
(U of T: University of Toronto)
+ 19 AuthorsRosa V Rademakers1
Estimated H-index: 1
(UCLA: University of California, Los Angeles)
Recently, Coppola and colleagues demonstrated that a rare microtubule-associated protein tau (MAPT) sequence variant, c.454G>A (p.A152T) significantly increases the risk of frontotemporal dementia (FTD) spectrum disorders and Alzheimer disease (AD) in a screen of 15,369 subjects. We describe clinical features of 9 patients with neurodegenerative disease (4 women) harboring p.A152T, aged 51 to 79 years at symptom onset. Seven developed FTD spectrum clinical syndromes, including progressive supran...
30 Citations Source Cite
Published on Sep 1, 2012in Neurobiology of Aging 4.40
Eleanna Kara14
Estimated H-index: 14
(UCL Institute of Neurology),
Helen Ling22
Estimated H-index: 22
(UCL Institute of Neurology)
+ 11 AuthorsGeorgia Xiromerisiou24
Estimated H-index: 24
(UCL Institute of Neurology)
Microtubule-associated protein tau (MAPT) mutations have been shown to underlie frontotemporal dementia and a variety of additional sporadic tauopathies. We identified a rare p.A152T variant in MAPT exon 7 in two (of eight) patients with clinical presentation of parkinsonism and postmortem finding of neurofibrillary tangle pathology. Two siblings of one patient also carried the p.A152T variant, and both have progressive cognitive impairment. Further screening identified the variant in two other ...
53 Citations Source Cite
Published on Aug 1, 2012in Human Molecular Genetics 4.54
Giovanni Coppola59
Estimated H-index: 59
(UCLA: University of California, Los Angeles),
Subashchandrabose Chinnathambi1
Estimated H-index: 1
(Center of Advanced European Studies and Research)
+ 204 AuthorsRenee Sears8
Estimated H-index: 8
(UCLA: University of California, Los Angeles)
Rare mutations in the gene encoding for tau (MAPT, microtubule-associated protein tau) cause frontotemporal dementia-spectrum (FTD-s) disorders, including FTD, progressive supranuclear palsy (PSP) and corticobasal syndrome, and a common extended haplotype spanning across the MAPT locus is associated with increased risk of PSP and Parkinson's disease. We identified a rare tau variant (p.A152T) in a patient with a clinical diagnosis of PSP and assessed its frequency in multiple independent series ...
121 Citations Source Cite
Published on Sep 1, 2011in Brain 11.81
Katya Rascovsky20
Estimated H-index: 20
(UPenn: University of Pennsylvania),
John R. Hodges125
Estimated H-index: 125
(UNSW: University of New South Wales)
+ 43 AuthorsChiadi U. Onyike18
Estimated H-index: 18
(Johns Hopkins University)
Based on the recent literature and collective experience, an international consortium developed revised guidelines for the diagnosis of behavioural variant frontotemporal dementia. The validation process retrospectively reviewed clinical records and compared the sensitivity of proposed and earlier criteria in a multi-site sample of patients with pathologically verified frontotemporal lobar degeneration. According to the revised criteria, ‘possible’ behavioural variant frontotemporal dementia req...
1,723 Citations Source Cite
Published on Jan 7, 2011in Journal of Alzheimer's Disease 3.70
Lluis Samaranch20
Estimated H-index: 20
,
Sebastián Cervantes10
Estimated H-index: 10
+ 13 AuthorsAlberto Marcos1
Estimated H-index: 1
Microtubule-associated protein tau (MAPT) and apolipoprotein E (APOE) are involved in the pathogenic mechanisms of Alzheimer’s disease (AD). We prospectively followed three longitudinal independent samples (total n = 319) with amnestic mild cognitive impairment (MCI) and analyzed whether MAPT H1/H2 haplotypes and APOE e4 polymorphisms accelerated the rate of progression from MCI to dementia. At the end of the study, 172 subjects remained cognitively stable, whereas 147 progressed to dementia. AP...
16 Citations Source Cite
Cited By15
Newest
Published on Dec 1, 2018in Nature Communications 11.88
Na Zhao10
Estimated H-index: 10
(Mayo Clinic),
Chia-Chen Liu22
Estimated H-index: 22
(Mayo Clinic)
+ 20 AuthorsYuka A. Martens3
Estimated H-index: 3
(Mayo Clinic)
Apolipoprotein E (APOE) e4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease mainly by modulating amyloid-β pathology. APOE e4 is also shown to exacerbate neurodegeneration and neuroinflammation in a tau transgenic mouse model. To further evaluate the association of APOE genotype with the presence and severity of tau pathology, we express human tau via an adeno-associated virus gene delivery approach in human APOE targeted replacement mice. We find increased hyperpho...
2 Citations Source Cite
Published on May 30, 2018in Frontiers in Neurology 2.63
Frederic Sampedro8
Estimated H-index: 8
,
Juan Marín-Lahoz3
Estimated H-index: 3
+ 2 AuthorsJaime Kulisevsky43
Estimated H-index: 43
1 Citations Source Cite
Published on Apr 1, 2018in Redox biology 7.79
Plamena R. Angelova20
Estimated H-index: 20
(UCL Institute of Neurology),
Mario Barilani2
Estimated H-index: 2
(University of Milan)
+ 8 AuthorsAndrey Y. Abramov46
Estimated H-index: 46
(UCL Institute of Neurology)
Abstract Sporadic cases account for 90–95% of all patients with Parkinson's Disease (PD). Atypical Parkinsonism comprises approximately 20% of all patients with parkinsonism. Progressive Supranuclear Palsy (PSP) belongs to the atypical parkinsonian diseases and is histopathologically classified as a tauopathy. Here, we report that mesenchymal stem cells (MSCs) derived from the bone marrow of patients with PSP exhibit mitochondrial dysfunction in the form of decreased membrane potential and inhib...
19 Citations Source Cite
Published on Dec 1, 2017in Molecular Brain 4.05
Michel Goedert114
Estimated H-index: 114
(LMB: Laboratory of Molecular Biology),
Maria Grazia Spillantini64
Estimated H-index: 64
(University of Cambridge)
Since 2009, evidence has accumulated to suggest that Tau aggregates form first in a small number of brain cells, from where they propagate to other regions, resulting in neurodegeneration and disease. Propagation of Tau aggregates is often called prion-like, which refers to the capacity of an assembled protein to induce the same abnormal conformation in a protein of the same kind, initiating a self-amplifying cascade. In addition, prion-like encompasses the release of protein aggregates from bra...
38 Citations Source Cite
Published on Nov 1, 2017in Movement Disorders 8.06
Susanne A. Schneider42
Estimated H-index: 42
(LMU: Ludwig Maximilian University of Munich),
Roy N. Alcalay27
Estimated H-index: 27
(CUMC: Columbia University Medical Center)
Clinical–pathological studies remain the gold-standard for the diagnosis of Parkinson's disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis of PD based on Lewy body pathology. Most of the confirmed genetic risks for PD show heterogenous neuropathology, even within kindreds, which may or may not include Lewy body pathology. We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNC...
27 Citations Source Cite
Published on Aug 1, 2017in Acta Neuropathologica 18.17
Tara L. Spires-Jones41
Estimated H-index: 41
(Edin.: University of Edinburgh),
Johannes Attems44
Estimated H-index: 44
(Newcastle University),
Dietmar R. Thal53
Estimated H-index: 53
(Katholieke Universiteit Leuven)
Neurodegenerative diseases such as Alzheimer’s disease (AD), frontotemporal lobar degeneration (FTD), Lewy body disease (LBD), Parkinson’s disease (PD), and amyotrophic lateral sclerosis (ALS) have in common that protein aggregates represent pathological hallmark lesions. Amyloid β-protein, τ-protein, α-synuclein, and TDP-43 are the most frequently aggregated proteins in these disorders. Although they are assumed to form disease-characteristic aggregates, such as amyloid plaques and neurofibrill...
61 Citations Source Cite
Published on Jul 25, 2017in Annual Review of Neuroscience 12.04
Michel Goedert114
Estimated H-index: 114
,
David Eisenberg134
Estimated H-index: 134
,
R. A. Crowther8
Estimated H-index: 8
A pathway from the natively unfolded microtubule-associated protein Tau to a highly structured amyloid fibril underlies human Tauopathies. This ordered assembly causes disease and represents the gain of toxic function. In recent years, evidence has accumulated to suggest that Tau inclusions form first in a small number of brain cells, from where they propagate to other regions, resulting in neurodegeneration and disease. Propagation of pathology is often called prion-like, which refers to the ca...
56 Citations Source Cite
Published on Jun 8, 2017in PLOS ONE 2.78
Fermin Moreno13
Estimated H-index: 13
,
Begoña Indakoetxea9
Estimated H-index: 9
+ 10 AuthorsJosé Félix Martí Massó13
Estimated H-index: 13
1 Citations Source Cite
Published on Apr 1, 2017in Brain 11.81
Ana Lopez1
Estimated H-index: 1
(University of Cambridge),
Suzee E. Lee17
Estimated H-index: 17
(UCSF: University of California, San Francisco)
+ 16 AuthorsLars Schlotawa10
Estimated H-index: 10
(University of Cambridge)
We thank the Tau consortium (SEL, ALB, GC, BLM, DCR), P50 AG02350, P01 AG019724, R01AG038791, U54NS092089, F31 NS084556, Alzheimer’s Research UK (DCR) Wellcome Trust (Principal Research Fellowship to 095317/Z/11/Z), a Wellcome Trust Strategic Grant to Cambridge Institute for Medical Research (100140/Z/12/Z), NIHR Biomedical Research Unit in Dementia at Addenbrooke’s Hospital, the John Douglas French Alzheimer’s Foundation for funding. L.S. is funded by a DFG fellowship, N.V.O. is funded by BBSRC...
28 Citations Source Cite
Published on Jan 1, 2017in Alzheimer Disease & Associated Disorders 2.38
Sarah E. Monsell18
Estimated H-index: 18
,
Charles Mock53
Estimated H-index: 53
+ 7 AuthorsWalter A. Kukull77
Estimated H-index: 77
Objective:The objective was to determine whether symptomatic and asymptomatic persons with Alzheimer disease (AD) neuropathology have different allele counts for single-nucleotide polymorphisms that have been associated with clinical late-onset AD.Methods:Data came from the National Alzheimer’s Coor
2 Citations Source Cite