ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2016
Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.
Open access · hybridAbstract readMulticenter Study
In one paragraph
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 6 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
84citing papers in PubMed, 6 pooled it
12.0field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
84 citing papers in PubMed, 6 syntheses or guidelines pooled it, 125 citations in OpenAlex.
- A Multi-Ancestry GWAS Meta-Analysis Integrated with In-Depth Silico, Systems Biology, and Pharmacogenomics Approaches on Alzheimer's Disease Among 1,198,689 Subjects.Journal of molecular neuroscience : MN · 2025Pooled it
- Pooled it
- Genome-wide meta-analysis identifies ancestry-specific loci for Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Pooled it
- Demographic, clinical, biomarker, and neuropathological correlates of posterior cortical atrophy: an international cohort study and individual participant data meta-analysis.The Lancet. Neurology · 2024Pooled it
- Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia.Annals of neurology · 2018Pooled it
- INPP5D rs35349669 polymorphism with late-onset Alzheimer's disease: A replication study and meta-analysis.Oncotarget · 2016Pooled it
- Decreased amyloid-related structure-function coupling in preclinical Alzheimer's disease.Communications medicine · 2026Article
- Mitochondrial protein import stress causes lysosomal damage and progressive tissue atrophy.EMBO reports · 2026Article
- Neurofibrillary tangle distribution in posterior cortical atrophy and typical early-onset Alzheimer's Disease.Free neuropathology · 2026Article
- Mapping Alzheimer's disease heterogeneity through exploratory unsupervised learning.Frontiers in aging neuroscience · 2026Article
- CSF proteomic profiles related to cognitive decline in MCI A+ depend on tau levels.Brain : a journal of neurology · 2025Article
- Cortical thickness subtypes in cognitively unimpaired individuals: Differential network and transcriptomic vulnerability to cortical thinning.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Alzheimer's disease and age-related macular degeneration: Shared and distinct immune mechanisms.Immunity · 2025Review
- Blood biomarker profiles in young-onset neurocognitive disorders: A cohort study.The Australian and New Zealand journal of psychiatry · 2025Article
- Pathological Characterisation of Posterior Cortical Atrophy in Comparison With Amnestic Alzheimer's Disease.Neuropathology and applied neurobiology · 2025Article
- Inflammatory Bridges: Interconnections Between Alzheimer's Disease and Bone Health.Aging and disease · 2025Review
- Transcription Factor-Wide Association Studies to Identify Functional SNPs in Alzheimer's Disease.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- An uncommon variant of Alzheimer's disease: Posterior cortical atrophy.The South African journal of psychiatry : SAJP : the journal of the Society of Psychiatrists of South Africa · 2025Article
- Atypical Presentations of Alzheimer Disease.Continuum (Minneapolis, Minn.) · 2024Review
- Functional investigation suggests CNTNAP5 involvement in glaucomatous neurodegeneration obtained from a GWAS in primary angle closure glaucoma.PLoS genetics · 2024Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
44 authors at 20 institutions in 8 countries.
Jonathan M SchottDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK. Electronic address: j.schott@ucl.ac.uk.
Sebastian J CrutchDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK.
Minerva M CarrasquilloDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
James UphillDepartment of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London, UK.
Tim J ShakespeareDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK.
Natalie S RyanDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK.
Keir X YongDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK.
Manja LehmannDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK.
Nilufer Ertekin-TanerDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Neill R Graff-RadfordDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Bradley F BoeveDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Melissa E MurrayDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Qurat Ul Ain KhanDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Ronald C PetersenDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
David S KnopmanDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Gil D RabinoviciUCSF, San Francisco, CA, USA.
Bruce L MillerUCSF, San Francisco, CA, USA.
Aida Suárez GonzálezDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK; Memory Disorders Unit, Department of Neurology, University Hospital Virgen del Rocio, Seville, Spain.
Eulogio Gil-NécigaMemory Disorders Unit, Department of Neurology, University Hospital Virgen del Rocio, Seville, Spain.
Julie S SnowdenInstitute of Brain, Behaviour and Mental Health, University of Manchester, UK.
Jenny HarrisInstitute of Brain, Behaviour and Mental Health, University of Manchester, UK.
Stuart M Pickering-BrownInstitute of Brain, Behaviour and Mental Health, University of Manchester, UK.
Eva LouwersheimerAlzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands.
Wiesje M van der FlierAlzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands.
Philip ScheltensAlzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands.
Yolande A PijnenburgAlzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands.
Douglas GalaskoDepartment of Epidemiology & Biostatistics, VU University Medical Center, Amsterdam, The Netherlands; UC San Diego/VA San Diego Healthcare System, San Diego, CA, USA.
Marie SarazinINSERM U610, Hôpital de la Salpêtrière, Paris, France.
Bruno DuboisCentre des Maladies Cognitives et Comportementales, IM2A, ICM, Paris 6 University, France.
Eloi MagninRegional Memory Centre (CMRR), CHU Besançon, Besançon, France.
Daniela GalimbertiUniversity of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Italy.
Elio ScarpiniUniversity of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Italy.
Stefano F CappaVita-Salute San Raffaele University, Milan, Italy.
John R HodgesUniversity of New South Wales, Sydney, Australia.
Glenda M HallidayUniversity of New South Wales, Sydney, Australia.
Lauren BartleyUniversity of New South Wales, Sydney, Australia.
Maria C CarrilloAlzheimer's Association, Chicago, IL, USA.
Jose T BrasDepartment of Molecular Neurosciences, UCL Institute of Neurology, London, UK.
John HardyDepartment of Molecular Neurosciences, UCL Institute of Neurology, London, UK.
Martin N RossorDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK.
John CollingeDepartment of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London, UK.
Nick C FoxDepartment of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK.
Simon MeadDepartment of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London, UK.
UK Dementia Research Institute · GBAmsterdam Neuroscience · NLMayo Clinic in Florida · USUniversity College London · GBMayo Clinic in Arizona · USUniversity of Manchester · GBUNSW Sydney · AUHospital Universitario Virgen del Rocío · ESMRC Prion Unit · GBAlzheimer's Association · USCentre Hospitalier Universitaire de Besançon · FRFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITInstitute of Molecular Medicine · INJacksonville College · USPitié-Salpêtrière Hospital · FRSorbonne Université · FRUniversity of California, San Diego · USUniversity of Milan · ITVita-Salute San Raffaele University · ITWinnMed · US
Funding
TDP-43 Loss-of-Function: Biology to BiomarkersP01AG019724 · NIA · UNIVERSITY OF PENNSYLVANIA · PI Jennifer Merrilees · 2002 to 2026
$67.2MVIRUS-INDUCED BRAIN PATHOLOGYP50AG005131 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BREWER, JAMES B · 1985 to 2018
$55.4MTHE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI PETERSEN, RONALD C · 1999 to 2018
$36.9MPrPSc SPECIFIC INTERACTION WITH NOVEL PrP-Fc FUSION PROTEINSP50AG023501 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI HUANG, YADONG · 2004 to 2018
$27.1MIntegrating the exposome and methylome to inform brain molecular changes in ADRD across established diverse cohorts.U01AG046139 · NIA · UNIVERSITY OF FLORIDA · PI ERTEKIN-TANER, NILUFER, FUNK, CORY · 2013 to 2022
$24.6MEarly Age-of-Onset AD: Clinical Heterogeneity and Network DegenerationR01AG045611 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RABINOVICI, GIL DAN · 2014 to 2018
$3.1MGene discovery in PSP by transcriptome, neuropathology and sequence analysisR01NS080820 · NINDS · MAYO CLINIC JACKSONVILLE · PI ERTEKIN-TANER, NILUFER · 2013 to 2017
$1.8MGenome wide association study of gene expression levels in Alzheimer's diseaseR01AG032990 · NIA · MAYO CLINIC JACKSONVILLE · PI ERTEKIN-TANER, NILUFER · 2009 to 2011
$932kTHE FRAMINGHAM HEART STUDY-N01HC25195-268025195-268025195N01HC025195 · HC · TRUSTEES OF BOSTON UNIVERSITY · PI WOLF, PHILIP A · 2002 to 2006
–Medical Research Council MC_U123160651Medical Research Council MC_U123160657Medical Research Council MC_U123192748Medical Research Council MR/009076/1Medical Research Council MR/L023784/1NHLBI NIH HHS N01 HC025195NIA NIH HHS P01 AG019724NIA NIH HHS P50 AG005131NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG023501NIA NIH HHS R01 AG032990NIA NIH HHS R01 AG045611NIA NIH HHS U01 AG046139NINDS NIH HHS R01 NS080820The Dunhill Medical Trust R337/0214Wellcome Trust 076113
Abstract
introductionThe genetics underlying posterior cortical atrophy (PCA), typically a rare variant of Alzheimer's disease (AD), remain uncertain.
methodsWe genotyped 302 PCA patients from 11 centers, calculated risk at 24 loci for AD/DLB and performed an exploratory genome-wide association study.
resultsWe confirm that variation in/near APOE/TOMM40 (P = 6 × 10(-14)) alters PCA risk, but with smaller effect than for typical AD (PCA: odds ratio [OR] = 2.03, typical AD: OR = 2.83, P = .0007). We found evidence for risk in/near CR1 (P = 7 × 10(-4)), ABCA7 (P = .02) and BIN1 (P = .04). ORs at variants near INPP5D and NME8 did not overlap between PCA and typical AD. Exploratory genome-wide association studies confirmed APOE and identified three novel loci: rs76854344 near CNTNAP5 (P = 8 × 10(-10) OR = 1.9 [1.5-2.3]); rs72907046 near FAM46A (P = 1 × 10(-9) OR = 3.2 [2.1-4.9]); and rs2525776 near SEMA3C (P = 1 × 10(-8), OR = 3.3 [2.1-5.1]). DISCUSSION: We provide evidence for genetic risk factors specifically related to PCA. We identify three candidate loci that, if replicated, may provide insights into selective vulnerability and phenotypic diversity in AD.
Indexed as
AgedAge FactorsAlzheimer DiseaseApolipoproteins EAtrophyCell Adhesion Molecules, NeuronalCerebral CortexFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMembrane Transport ProteinsMiddle AgedMitochondrial Precursor Protein Import Complex ProteinsPolymorphism, Single NucleotideApolipoproteins ECell Adhesion Molecules, NeuronalCNTNAP5 protein, humanCR1 protein, humanMembrane Transport ProteinsMitochondrial Precursor Protein Import Complex ProteinsPolynucleotide AdenylyltransferaseProteinsReceptors, Complement 3bSema3C protein, humanSemaphorinsTENT5A protein, humanTOMM40 protein, humanAlzheimer's diseaseAPOEGeneticsGWASPosterior cortical atrophySelective vulnerability
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.