Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease
Identifieur interne : 001E50 ( Main/Exploration ); précédent : 001E49; suivant : 001E51Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease
Auteurs : Jonathan M. Schott [Royaume-Uni] ; Sebastian J. Crutch [Royaume-Uni] ; Minerva M. Carrasquillo [États-Unis] ; James Uphill [Royaume-Uni] ; Tim J. Shakespeare [Royaume-Uni] ; Natalie S. Ryan [Royaume-Uni] ; Keir X. Yong [Royaume-Uni] ; Manja Lehmann [Royaume-Uni] ; Nilufer Ertekin-Taner [États-Unis] ; Neill R. Graff-Radford [États-Unis] ; Bradley F. Boeve [États-Unis] ; Melissa E. Murray [États-Unis] ; Qurat Ul Ain Khan [États-Unis] ; Ronald C. Petersen [États-Unis] ; Dennis W. Dickson [États-Unis] ; David S. Knopman [États-Unis] ; Gil D. Rabinovici [États-Unis] ; Bruce L. Miller [États-Unis] ; Aida Suárez González [Royaume-Uni, Espagne] ; Eulogio Gil-Néciga [Espagne] ; Julie S. Snowden [Royaume-Uni] ; Jenny Harris [Royaume-Uni] ; Stuart M. Pickering-Brown [Royaume-Uni] ; Eva Louwersheimer [Pays-Bas] ; Wiesje M. Van Der Flier [Pays-Bas] ; Philip Scheltens [Pays-Bas] ; Yolande A. Pijnenburg [Pays-Bas] ; Douglas Galasko [Pays-Bas, États-Unis] ; Marie Sarazin [France] ; Bruno Dubois [France] ; Eloi Magnin [France] ; Daniela Galimberti [Italie] ; Elio Scarpini [Italie] ; Stefano F. Cappa [Italie] ; John R. Hodges [Australie] ; Glenda M. Halliday [Australie] ; Lauren Bartley [Australie] ; Maria C. Carrillo [États-Unis] ; Jose T. Bras [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Martin N. Rossor [Royaume-Uni] ; John Collinge [Royaume-Uni] ; Nick C. Fox [Royaume-Uni] ; Simon Mead [Royaume-Uni]Source :
- Alzheimer's & Dementia [ 1552-5260 ] ; 2016.
Descripteurs français
- KwdFr :
- Adulte d'âge moyen, Apolipoprotéines E (génétique), Atrophie (étiologie), Cortex cérébral (anatomopathologie), Facteurs de l'âge, Facteurs de risque, Femelle, Humains, Maladie d'Alzheimer (), Maladie d'Alzheimer (génétique), Molécules d'adhérence cellulaire neuronale (génétique), Mâle, Polymorphisme de nucléotide simple (génétique), Protéines (génétique), Protéines de transport membranaire (génétique), Prédisposition génétique à une maladie (génétique), Récepteurs au C3b du complément (génétique), Sujet âgé, Sémaphorines (génétique), Études d'associations génétiques.
- MESH :
- anatomopathologie : Cortex cérébral.
- génétique : Apolipoprotéines E, Maladie d'Alzheimer, Molécules d'adhérence cellulaire neuronale, Polymorphisme de nucléotide simple, Protéines, Protéines de transport membranaire, Prédisposition génétique à une maladie, Récepteurs au C3b du complément, Sémaphorines.
- étiologie : Atrophie.
- Adulte d'âge moyen, Facteurs de l'âge, Facteurs de risque, Femelle, Humains, Maladie d'Alzheimer, Mâle, Sujet âgé, Études d'associations génétiques.
English descriptors
- KwdEn :
- Age Factors, Aged, Alzheimer Disease (complications), Alzheimer Disease (genetics), Apolipoproteins E (genetics), Atrophy (etiology), Cell Adhesion Molecules, Neuronal (genetics), Cerebral Cortex (pathology), Female, Genetic Association Studies, Genetic Predisposition to Disease (genetics), Humans, Male, Membrane Transport Proteins (genetics), Middle Aged, Polymorphism, Single Nucleotide (genetics), Proteins (genetics), Receptors, Complement 3b (genetics), Risk Factors, Semaphorins (genetics).
- MESH :
- chemical , genetics : Apolipoproteins E, Cell Adhesion Molecules, Neuronal, Membrane Transport Proteins, Proteins, Receptors, Complement 3b, Semaphorins.
- complications : Alzheimer Disease.
- etiology : Atrophy.
- genetics : Alzheimer Disease, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide.
- pathology : Cerebral Cortex.
- Age Factors, Aged, Female, Genetic Association Studies, Humans, Male, Middle Aged, Risk Factors.
Abstract
The genetics underlying posterior cortical atrophy (PCA), typically a rare variant of Alzheimer's disease (AD), remain uncertain.
We genotyped 302 PCA patients from 11 centers, calculated risk at 24 loci for AD/DLB and performed an exploratory genome-wide association study.
We confirm that variation in/near
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.
Url:
DOI: 10.1016/j.jalz.2016.01.010
PubMed: 26993346
PubMed Central: 4982482
Affiliations:
- Australie, Espagne, France, Italie, Pays-Bas, Royaume-Uni, États-Unis
- Angleterre, Bourgogne-Franche-Comté, Californie, Floride, Franche-Comté, Grand Londres, Grand Manchester, Hollande-Septentrionale, Illinois, Lombardie, Minnesota, Nouvelle-Galles du Sud, Île-de-France
- Amsterdam, Besançon, Londres, Manchester, Milan, Paris, Sydney
- Université de Manchester
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Le document en format XML
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Graff-Radford</name><affiliation wicri:level="2"><nlm:aff id="aff4">Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name><affiliation wicri:level="2"><nlm:aff id="aff5">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Murray, Melissa E" sort="Murray, Melissa E" uniqKey="Murray M" first="Melissa E." last="Murray">Melissa E. Murray</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Khan, Qurat Ul Ain" sort="Khan, Qurat Ul Ain" uniqKey="Khan Q" first="Qurat Ul Ain" last="Khan">Qurat Ul Ain Khan</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name><affiliation wicri:level="2"><nlm:aff id="aff5">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Knopman, David S" sort="Knopman, David S" uniqKey="Knopman D" first="David S." last="Knopman">David S. Knopman</name><affiliation wicri:level="2"><nlm:aff id="aff5">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Rabinovici, Gil D" sort="Rabinovici, Gil D" uniqKey="Rabinovici G" first="Gil D." last="Rabinovici">Gil D. Rabinovici</name><affiliation wicri:level="2"><nlm:aff id="aff6">UCSF, San Francisco, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>UCSF, San Francisco, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L." last="Miller">Bruce L. Miller</name><affiliation wicri:level="2"><nlm:aff id="aff6">UCSF, San Francisco, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>UCSF, San Francisco, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Gonzalez, Aida Suarez" sort="Gonzalez, Aida Suarez" uniqKey="Gonzalez A" first="Aida Suárez" last="González">Aida Suárez González</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff7">Memory Disorders Unit, Department of Neurology, University Hospital Virgen del Rocio, Seville, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Memory Disorders Unit, Department of Neurology, University Hospital Virgen del Rocio, Seville</wicri:regionArea><wicri:noRegion>Seville</wicri:noRegion></affiliation></author><author><name sortKey="Gil Neciga, Eulogio" sort="Gil Neciga, Eulogio" uniqKey="Gil Neciga E" first="Eulogio" last="Gil-Néciga">Eulogio Gil-Néciga</name><affiliation wicri:level="1"><nlm:aff id="aff7">Memory Disorders Unit, Department of Neurology, University Hospital Virgen del Rocio, Seville, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Memory Disorders Unit, Department of Neurology, University Hospital Virgen del Rocio, Seville</wicri:regionArea><wicri:noRegion>Seville</wicri:noRegion></affiliation></author><author><name sortKey="Snowden, Julie S" sort="Snowden, Julie S" uniqKey="Snowden J" first="Julie S." last="Snowden">Julie S. Snowden</name><affiliation wicri:level="4"><nlm:aff id="aff8">Institute of Brain, Behaviour and Mental Health, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Brain, Behaviour and Mental Health, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Harris, Jenny" sort="Harris, Jenny" uniqKey="Harris J" first="Jenny" last="Harris">Jenny Harris</name><affiliation wicri:level="4"><nlm:aff id="aff8">Institute of Brain, Behaviour and Mental Health, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Brain, Behaviour and Mental Health, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Pickering Brown, Stuart M" sort="Pickering Brown, Stuart M" uniqKey="Pickering Brown S" first="Stuart M." last="Pickering-Brown">Stuart M. Pickering-Brown</name><affiliation wicri:level="4"><nlm:aff id="aff8">Institute of Brain, Behaviour and Mental Health, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Brain, Behaviour and Mental Health, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Louwersheimer, Eva" sort="Louwersheimer, Eva" uniqKey="Louwersheimer E" first="Eva" last="Louwersheimer">Eva Louwersheimer</name><affiliation wicri:level="3"><nlm:aff id="aff9">Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Van Der Flier, Wiesje M" sort="Van Der Flier, Wiesje M" uniqKey="Van Der Flier W" first="Wiesje M." last="Van Der Flier">Wiesje M. Van Der Flier</name><affiliation wicri:level="3"><nlm:aff id="aff9">Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Scheltens, Philip" sort="Scheltens, Philip" uniqKey="Scheltens P" first="Philip" last="Scheltens">Philip Scheltens</name><affiliation wicri:level="3"><nlm:aff id="aff9">Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Pijnenburg, Yolande A" sort="Pijnenburg, Yolande A" uniqKey="Pijnenburg Y" first="Yolande A." last="Pijnenburg">Yolande A. Pijnenburg</name><affiliation wicri:level="3"><nlm:aff id="aff9">Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Galasko, Douglas" sort="Galasko, Douglas" uniqKey="Galasko D" first="Douglas" last="Galasko">Douglas Galasko</name><affiliation wicri:level="3"><nlm:aff id="aff10">Department of Epidemiology & Biostatistics, VU University Medical Center, Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Epidemiology & Biostatistics, VU University Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="aff11">UC San Diego/VA San Diego Healthcare System, San Diego, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>UC San Diego/VA San Diego Healthcare System, San Diego, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Sarazin, Marie" sort="Sarazin, Marie" uniqKey="Sarazin M" first="Marie" last="Sarazin">Marie Sarazin</name><affiliation wicri:level="3"><nlm:aff id="aff12">INSERM U610, Hôpital de la Salpêtrière, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U610, Hôpital de la Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Dubois, Bruno" sort="Dubois, Bruno" uniqKey="Dubois B" first="Bruno" last="Dubois">Bruno Dubois</name><affiliation wicri:level="1"><nlm:aff id="aff13">Centre des Maladies Cognitives et Comportementales, IM2A, ICM, Paris 6 University, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre des Maladies Cognitives et Comportementales, IM2A, ICM, Paris 6 University</wicri:regionArea><wicri:noRegion>Paris 6 University</wicri:noRegion><wicri:noRegion>Paris 6 University</wicri:noRegion></affiliation></author><author><name sortKey="Magnin, Eloi" sort="Magnin, Eloi" uniqKey="Magnin E" first="Eloi" last="Magnin">Eloi Magnin</name><affiliation wicri:level="3"><nlm:aff id="aff14">Regional Memory Centre (CMRR), CHU Besançon, Besançon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Regional Memory Centre (CMRR), CHU Besançon, Besançon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Franche-Comté</region><settlement type="city">Besançon</settlement></placeName></affiliation></author><author><name sortKey="Galimberti, Daniela" sort="Galimberti, Daniela" uniqKey="Galimberti D" first="Daniela" last="Galimberti">Daniela Galimberti</name><affiliation wicri:level="1"><nlm:aff id="aff15">University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico</wicri:regionArea><wicri:noRegion>IRCCS Ospedale Policlinico</wicri:noRegion></affiliation></author><author><name sortKey="Scarpini, Elio" sort="Scarpini, Elio" uniqKey="Scarpini E" first="Elio" last="Scarpini">Elio Scarpini</name><affiliation wicri:level="1"><nlm:aff id="aff15">University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico</wicri:regionArea><wicri:noRegion>IRCCS Ospedale Policlinico</wicri:noRegion></affiliation></author><author><name sortKey="Cappa, Stefano F" sort="Cappa, Stefano F" uniqKey="Cappa S" first="Stefano F." last="Cappa">Stefano F. Cappa</name><affiliation wicri:level="3"><nlm:aff id="aff16">Vita-Salute San Raffaele University, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Vita-Salute San Raffaele University, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Hodges, John R" sort="Hodges, John R" uniqKey="Hodges J" first="John R." last="Hodges">John R. Hodges</name><affiliation wicri:level="3"><nlm:aff id="aff17">University of New South Wales, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name><affiliation wicri:level="3"><nlm:aff id="aff17">University of New South Wales, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Bartley, Lauren" sort="Bartley, Lauren" uniqKey="Bartley L" first="Lauren" last="Bartley">Lauren Bartley</name><affiliation wicri:level="3"><nlm:aff id="aff17">University of New South Wales, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Carrillo, Maria C" sort="Carrillo, Maria C" uniqKey="Carrillo M" first="Maria C." last="Carrillo">Maria C. Carrillo</name><affiliation wicri:level="2"><nlm:aff id="aff18">Alzheimer's Association, Chicago, IL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Alzheimer's Association, Chicago, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Bras, Jose T" sort="Bras, Jose T" uniqKey="Bras J" first="Jose T." last="Bras">Jose T. Bras</name><affiliation wicri:level="3"><nlm:aff id="aff19">Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neurosciences, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="3"><nlm:aff id="aff19">Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neurosciences, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Rossor, Martin N" sort="Rossor, Martin N" uniqKey="Rossor M" first="Martin N." last="Rossor">Martin N. Rossor</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Collinge, John" sort="Collinge, John" uniqKey="Collinge J" first="John" last="Collinge">John Collinge</name><affiliation wicri:level="3"><nlm:aff id="aff3">Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Fox, Nick C" sort="Fox, Nick C" uniqKey="Fox N" first="Nick C." last="Fox">Nick C. Fox</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mead, Simon" sort="Mead, Simon" uniqKey="Mead S" first="Simon" last="Mead">Simon Mead</name><affiliation wicri:level="3"><nlm:aff id="aff3">Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26993346</idno><idno type="pmc">4982482</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982482</idno><idno type="RBID">PMC:4982482</idno><idno type="doi">10.1016/j.jalz.2016.01.010</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">002228</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002228</idno><idno type="wicri:Area/Pmc/Curation">002078</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002078</idno><idno type="wicri:Area/Pmc/Checkpoint">000915</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000915</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">001A66</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001A66</idno><idno type="wicri:Area/PubMed/Curation">001A42</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001A42</idno><idno type="wicri:Area/PubMed/Checkpoint">001A42</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001A42</idno><idno type="wicri:Area/Ncbi/Merge">003306</idno><idno type="wicri:Area/Ncbi/Curation">003306</idno><idno type="wicri:Area/Ncbi/Checkpoint">003306</idno><idno type="wicri:doubleKey">1552-5260:2016:Schott J:genetic:risk:factors</idno><idno type="wicri:Area/Main/Merge">001E48</idno><idno type="wicri:Area/Main/Curation">001E50</idno><idno type="wicri:Area/Main/Exploration">001E50</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease</title><author><name sortKey="Schott, Jonathan M" sort="Schott, Jonathan M" uniqKey="Schott J" first="Jonathan M." last="Schott">Jonathan M. Schott</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Crutch, Sebastian J" sort="Crutch, Sebastian J" uniqKey="Crutch S" first="Sebastian J." last="Crutch">Sebastian J. Crutch</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Carrasquillo, Minerva M" sort="Carrasquillo, Minerva M" uniqKey="Carrasquillo M" first="Minerva M." last="Carrasquillo">Minerva M. Carrasquillo</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Uphill, James" sort="Uphill, James" uniqKey="Uphill J" first="James" last="Uphill">James Uphill</name><affiliation wicri:level="3"><nlm:aff id="aff3">Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Shakespeare, Tim J" sort="Shakespeare, Tim J" uniqKey="Shakespeare T" first="Tim J." last="Shakespeare">Tim J. Shakespeare</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Ryan, Natalie S" sort="Ryan, Natalie S" uniqKey="Ryan N" first="Natalie S." last="Ryan">Natalie S. Ryan</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Yong, Keir X" sort="Yong, Keir X" uniqKey="Yong K" first="Keir X." last="Yong">Keir X. Yong</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lehmann, Manja" sort="Lehmann, Manja" uniqKey="Lehmann M" first="Manja" last="Lehmann">Manja Lehmann</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Ertekin Taner, Nilufer" sort="Ertekin Taner, Nilufer" uniqKey="Ertekin Taner N" first="Nilufer" last="Ertekin-Taner">Nilufer Ertekin-Taner</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="aff4">Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name><affiliation wicri:level="2"><nlm:aff id="aff4">Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name><affiliation wicri:level="2"><nlm:aff id="aff5">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Murray, Melissa E" sort="Murray, Melissa E" uniqKey="Murray M" first="Melissa E." last="Murray">Melissa E. Murray</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Khan, Qurat Ul Ain" sort="Khan, Qurat Ul Ain" uniqKey="Khan Q" first="Qurat Ul Ain" last="Khan">Qurat Ul Ain Khan</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name><affiliation wicri:level="2"><nlm:aff id="aff5">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation wicri:level="2"><nlm:aff id="aff2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Knopman, David S" sort="Knopman, David S" uniqKey="Knopman D" first="David S." last="Knopman">David S. Knopman</name><affiliation wicri:level="2"><nlm:aff id="aff5">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Rabinovici, Gil D" sort="Rabinovici, Gil D" uniqKey="Rabinovici G" first="Gil D." last="Rabinovici">Gil D. Rabinovici</name><affiliation wicri:level="2"><nlm:aff id="aff6">UCSF, San Francisco, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>UCSF, San Francisco, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L." last="Miller">Bruce L. Miller</name><affiliation wicri:level="2"><nlm:aff id="aff6">UCSF, San Francisco, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>UCSF, San Francisco, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Gonzalez, Aida Suarez" sort="Gonzalez, Aida Suarez" uniqKey="Gonzalez A" first="Aida Suárez" last="González">Aida Suárez González</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff7">Memory Disorders Unit, Department of Neurology, University Hospital Virgen del Rocio, Seville, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Memory Disorders Unit, Department of Neurology, University Hospital Virgen del Rocio, Seville</wicri:regionArea><wicri:noRegion>Seville</wicri:noRegion></affiliation></author><author><name sortKey="Gil Neciga, Eulogio" sort="Gil Neciga, Eulogio" uniqKey="Gil Neciga E" first="Eulogio" last="Gil-Néciga">Eulogio Gil-Néciga</name><affiliation wicri:level="1"><nlm:aff id="aff7">Memory Disorders Unit, Department of Neurology, University Hospital Virgen del Rocio, Seville, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Memory Disorders Unit, Department of Neurology, University Hospital Virgen del Rocio, Seville</wicri:regionArea><wicri:noRegion>Seville</wicri:noRegion></affiliation></author><author><name sortKey="Snowden, Julie S" sort="Snowden, Julie S" uniqKey="Snowden J" first="Julie S." last="Snowden">Julie S. Snowden</name><affiliation wicri:level="4"><nlm:aff id="aff8">Institute of Brain, Behaviour and Mental Health, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Brain, Behaviour and Mental Health, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Harris, Jenny" sort="Harris, Jenny" uniqKey="Harris J" first="Jenny" last="Harris">Jenny Harris</name><affiliation wicri:level="4"><nlm:aff id="aff8">Institute of Brain, Behaviour and Mental Health, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Brain, Behaviour and Mental Health, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Pickering Brown, Stuart M" sort="Pickering Brown, Stuart M" uniqKey="Pickering Brown S" first="Stuart M." last="Pickering-Brown">Stuart M. Pickering-Brown</name><affiliation wicri:level="4"><nlm:aff id="aff8">Institute of Brain, Behaviour and Mental Health, University of Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Brain, Behaviour and Mental Health, University of Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Louwersheimer, Eva" sort="Louwersheimer, Eva" uniqKey="Louwersheimer E" first="Eva" last="Louwersheimer">Eva Louwersheimer</name><affiliation wicri:level="3"><nlm:aff id="aff9">Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Van Der Flier, Wiesje M" sort="Van Der Flier, Wiesje M" uniqKey="Van Der Flier W" first="Wiesje M." last="Van Der Flier">Wiesje M. Van Der Flier</name><affiliation wicri:level="3"><nlm:aff id="aff9">Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Scheltens, Philip" sort="Scheltens, Philip" uniqKey="Scheltens P" first="Philip" last="Scheltens">Philip Scheltens</name><affiliation wicri:level="3"><nlm:aff id="aff9">Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Pijnenburg, Yolande A" sort="Pijnenburg, Yolande A" uniqKey="Pijnenburg Y" first="Yolande A." last="Pijnenburg">Yolande A. Pijnenburg</name><affiliation wicri:level="3"><nlm:aff id="aff9">Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Galasko, Douglas" sort="Galasko, Douglas" uniqKey="Galasko D" first="Douglas" last="Galasko">Douglas Galasko</name><affiliation wicri:level="3"><nlm:aff id="aff10">Department of Epidemiology & Biostatistics, VU University Medical Center, Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Epidemiology & Biostatistics, VU University Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="aff11">UC San Diego/VA San Diego Healthcare System, San Diego, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>UC San Diego/VA San Diego Healthcare System, San Diego, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Sarazin, Marie" sort="Sarazin, Marie" uniqKey="Sarazin M" first="Marie" last="Sarazin">Marie Sarazin</name><affiliation wicri:level="3"><nlm:aff id="aff12">INSERM U610, Hôpital de la Salpêtrière, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U610, Hôpital de la Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Dubois, Bruno" sort="Dubois, Bruno" uniqKey="Dubois B" first="Bruno" last="Dubois">Bruno Dubois</name><affiliation wicri:level="1"><nlm:aff id="aff13">Centre des Maladies Cognitives et Comportementales, IM2A, ICM, Paris 6 University, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre des Maladies Cognitives et Comportementales, IM2A, ICM, Paris 6 University</wicri:regionArea><wicri:noRegion>Paris 6 University</wicri:noRegion><wicri:noRegion>Paris 6 University</wicri:noRegion></affiliation></author><author><name sortKey="Magnin, Eloi" sort="Magnin, Eloi" uniqKey="Magnin E" first="Eloi" last="Magnin">Eloi Magnin</name><affiliation wicri:level="3"><nlm:aff id="aff14">Regional Memory Centre (CMRR), CHU Besançon, Besançon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Regional Memory Centre (CMRR), CHU Besançon, Besançon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Franche-Comté</region><settlement type="city">Besançon</settlement></placeName></affiliation></author><author><name sortKey="Galimberti, Daniela" sort="Galimberti, Daniela" uniqKey="Galimberti D" first="Daniela" last="Galimberti">Daniela Galimberti</name><affiliation wicri:level="1"><nlm:aff id="aff15">University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico</wicri:regionArea><wicri:noRegion>IRCCS Ospedale Policlinico</wicri:noRegion></affiliation></author><author><name sortKey="Scarpini, Elio" sort="Scarpini, Elio" uniqKey="Scarpini E" first="Elio" last="Scarpini">Elio Scarpini</name><affiliation wicri:level="1"><nlm:aff id="aff15">University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico</wicri:regionArea><wicri:noRegion>IRCCS Ospedale Policlinico</wicri:noRegion></affiliation></author><author><name sortKey="Cappa, Stefano F" sort="Cappa, Stefano F" uniqKey="Cappa S" first="Stefano F." last="Cappa">Stefano F. Cappa</name><affiliation wicri:level="3"><nlm:aff id="aff16">Vita-Salute San Raffaele University, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Vita-Salute San Raffaele University, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Hodges, John R" sort="Hodges, John R" uniqKey="Hodges J" first="John R." last="Hodges">John R. Hodges</name><affiliation wicri:level="3"><nlm:aff id="aff17">University of New South Wales, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name><affiliation wicri:level="3"><nlm:aff id="aff17">University of New South Wales, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Bartley, Lauren" sort="Bartley, Lauren" uniqKey="Bartley L" first="Lauren" last="Bartley">Lauren Bartley</name><affiliation wicri:level="3"><nlm:aff id="aff17">University of New South Wales, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Carrillo, Maria C" sort="Carrillo, Maria C" uniqKey="Carrillo M" first="Maria C." last="Carrillo">Maria C. Carrillo</name><affiliation wicri:level="2"><nlm:aff id="aff18">Alzheimer's Association, Chicago, IL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Alzheimer's Association, Chicago, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Bras, Jose T" sort="Bras, Jose T" uniqKey="Bras J" first="Jose T." last="Bras">Jose T. Bras</name><affiliation wicri:level="3"><nlm:aff id="aff19">Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neurosciences, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="3"><nlm:aff id="aff19">Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neurosciences, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Rossor, Martin N" sort="Rossor, Martin N" uniqKey="Rossor M" first="Martin N." last="Rossor">Martin N. Rossor</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Collinge, John" sort="Collinge, John" uniqKey="Collinge J" first="John" last="Collinge">John Collinge</name><affiliation wicri:level="3"><nlm:aff id="aff3">Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Fox, Nick C" sort="Fox, Nick C" uniqKey="Fox N" first="Nick C." last="Fox">Nick C. Fox</name><affiliation wicri:level="3"><nlm:aff id="aff1">Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mead, Simon" sort="Mead, Simon" uniqKey="Mead S" first="Simon" last="Mead">Simon Mead</name><affiliation wicri:level="3"><nlm:aff id="aff3">Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j">Alzheimer's & Dementia</title><idno type="ISSN">1552-5260</idno><idno type="eISSN">1552-5279</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age Factors</term><term>Aged</term><term>Alzheimer Disease (complications)</term><term>Alzheimer Disease (genetics)</term><term>Apolipoproteins E (genetics)</term><term>Atrophy (etiology)</term><term>Cell Adhesion Molecules, Neuronal (genetics)</term><term>Cerebral Cortex (pathology)</term><term>Female</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease (genetics)</term><term>Humans</term><term>Male</term><term>Membrane Transport Proteins (genetics)</term><term>Middle Aged</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Proteins (genetics)</term><term>Receptors, Complement 3b (genetics)</term><term>Risk Factors</term><term>Semaphorins (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Apolipoprotéines E (génétique)</term><term>Atrophie (étiologie)</term><term>Cortex cérébral (anatomopathologie)</term><term>Facteurs de l'âge</term><term>Facteurs de risque</term><term>Femelle</term><term>Humains</term><term>Maladie d'Alzheimer ()</term><term>Maladie d'Alzheimer (génétique)</term><term>Molécules d'adhérence cellulaire neuronale (génétique)</term><term>Mâle</term><term>Polymorphisme de nucléotide simple (génétique)</term><term>Protéines (génétique)</term><term>Protéines de transport membranaire (génétique)</term><term>Prédisposition génétique à une maladie (génétique)</term><term>Récepteurs au C3b du complément (génétique)</term><term>Sujet âgé</term><term>Sémaphorines (génétique)</term><term>Études d'associations génétiques</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apolipoproteins E</term><term>Cell Adhesion Molecules, Neuronal</term><term>Membrane Transport Proteins</term><term>Proteins</term><term>Receptors, Complement 3b</term><term>Semaphorins</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Cortex cérébral</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Alzheimer Disease</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Atrophy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Alzheimer Disease</term><term>Genetic Predisposition to Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Apolipoprotéines E</term><term>Maladie d'Alzheimer</term><term>Molécules d'adhérence cellulaire neuronale</term><term>Polymorphisme de nucléotide simple</term><term>Protéines</term><term>Protéines de transport membranaire</term><term>Prédisposition génétique à une maladie</term><term>Récepteurs au C3b du complément</term><term>Sémaphorines</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebral Cortex</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Atrophie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age Factors</term><term>Aged</term><term>Female</term><term>Genetic Association Studies</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Risk Factors</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Facteurs de l'âge</term><term>Facteurs de risque</term><term>Femelle</term><term>Humains</term><term>Maladie d'Alzheimer</term><term>Mâle</term><term>Sujet âgé</term><term>Études d'associations génétiques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Introduction</title><p>The genetics underlying posterior cortical atrophy (PCA), typically a rare variant of Alzheimer's disease (AD), remain uncertain.</p></sec><sec><title>Methods</title><p>We genotyped 302 PCA patients from 11 centers, calculated risk at 24 loci for AD/DLB and performed an exploratory genome-wide association study.</p></sec><sec><title>Results</title><p>We confirm that variation in/near <italic>APOE/TOMM40</italic> (<italic>P</italic> = 6 × 10<sup>−14</sup>) alters PCA risk, but with smaller effect than for typical AD (PCA: odds ratio [OR] = 2.03, typical AD: OR = 2.83, <italic>P</italic> = .0007). We found evidence for risk in/near <italic>CR1</italic> (<italic>P</italic> = 7 × 10<sup>−4</sup>), <italic>ABCA7</italic> (<italic>P</italic> = .02) and <italic>BIN1</italic> (<italic>P</italic> = .04). ORs at variants near <italic>INPP5D</italic> and <italic>NME8</italic> did not overlap between PCA and typical AD. Exploratory genome-wide association studies confirmed <italic>APOE</italic> and identified three novel loci: rs76854344 near <italic>CNTNAP5</italic> (<italic>P</italic> = 8 × 10<sup>−10</sup> OR = 1.9 [1.5–2.3]); rs72907046 near <italic>FAM46A</italic> (<italic>P</italic> = 1 × 10<sup>−9</sup> OR = 3.2 [2.1–4.9]); and rs2525776 near <italic>SEMA3C</italic> (<italic>P</italic> = 1 × 10<sup>−8</sup>, OR = 3.3 [2.1–5.1]).</p></sec><sec><title>Discussion</title><p>We provide evidence for genetic risk factors specifically related to PCA. 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Rabinovici</name></country><country name="Espagne"><noRegion><name sortKey="Gonzalez, Aida Suarez" sort="Gonzalez, Aida Suarez" uniqKey="Gonzalez A" first="Aida Suárez" last="González">Aida Suárez González</name></noRegion><name sortKey="Gil Neciga, Eulogio" sort="Gil Neciga, Eulogio" uniqKey="Gil Neciga E" first="Eulogio" last="Gil-Néciga">Eulogio Gil-Néciga</name></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Louwersheimer, Eva" sort="Louwersheimer, Eva" uniqKey="Louwersheimer E" first="Eva" last="Louwersheimer">Eva Louwersheimer</name></region><name sortKey="Galasko, Douglas" sort="Galasko, Douglas" uniqKey="Galasko D" first="Douglas" last="Galasko">Douglas Galasko</name><name sortKey="Pijnenburg, Yolande A" sort="Pijnenburg, Yolande A" uniqKey="Pijnenburg Y" first="Yolande A." last="Pijnenburg">Yolande A. Pijnenburg</name><name sortKey="Scheltens, Philip" sort="Scheltens, Philip" uniqKey="Scheltens P" first="Philip" last="Scheltens">Philip Scheltens</name><name sortKey="Van Der Flier, Wiesje M" sort="Van Der Flier, Wiesje M" uniqKey="Van Der Flier W" first="Wiesje M." last="Van Der Flier">Wiesje M. Van Der Flier</name></country><country name="France"><region name="Île-de-France"><name sortKey="Sarazin, Marie" sort="Sarazin, Marie" uniqKey="Sarazin M" first="Marie" last="Sarazin">Marie Sarazin</name></region><name sortKey="Dubois, Bruno" sort="Dubois, Bruno" uniqKey="Dubois B" first="Bruno" last="Dubois">Bruno Dubois</name><name sortKey="Magnin, Eloi" sort="Magnin, Eloi" uniqKey="Magnin E" first="Eloi" last="Magnin">Eloi Magnin</name></country><country name="Italie"><noRegion><name sortKey="Galimberti, Daniela" sort="Galimberti, Daniela" uniqKey="Galimberti D" first="Daniela" last="Galimberti">Daniela Galimberti</name></noRegion><name sortKey="Cappa, Stefano F" sort="Cappa, Stefano F" uniqKey="Cappa S" first="Stefano F." last="Cappa">Stefano F. Cappa</name><name sortKey="Scarpini, Elio" sort="Scarpini, Elio" uniqKey="Scarpini E" first="Elio" last="Scarpini">Elio Scarpini</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Hodges, John R" sort="Hodges, John R" uniqKey="Hodges J" first="John R." last="Hodges">John R. Hodges</name></region><name sortKey="Bartley, Lauren" sort="Bartley, Lauren" uniqKey="Bartley L" first="Lauren" last="Bartley">Lauren Bartley</name><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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