LRRK2 exonic variants and susceptibility to Parkinson’s disease
Identifieur interne : 000D71 ( Ncbi/Checkpoint ); précédent : 000D70; suivant : 000D72LRRK2 exonic variants and susceptibility to Parkinson’s disease
Auteurs : Owen A. Ross [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Michael G. Heckman [États-Unis] ; Jan O. Aasly [Norvège] ; Nadine Abahuni [Allemagne] ; Grazia Annesi ; Justin A. Bacon [États-Unis] ; Soraya Bardien [Afrique du Sud] ; Maria Bozi [Grèce] ; Alexis Brice [France] ; Laura Brighina [Italie] ; Christine Van Broeckhoven [Belgique] ; Jonathan Carr [Afrique du Sud] ; Marie-Christine Chartier-Harlin [France] ; Efthimios Dardiotis [Grèce] ; Dennis W. Dickson [États-Unis] ; Nancy N. Diehl [États-Unis] ; Alexis Elbaz [France] ; Carlo Ferrarese [Italie] ; Alessandro Ferraris [Italie] ; Brian Fiske [États-Unis] ; J. Mark Gibson [Irlande (pays)] ; Rachel Gibson [Royaume-Uni] ; Georgios M. Hadjigeorgiou [Grèce] ; Nobutaka Hattori [Japon] ; John P. A. Ioannidis [Grèce, États-Unis] ; Barbara Jasinska-Myga [Pologne] ; Beom S. Jeon [Corée du Sud] ; Yun Joong Kim [Corée du Sud] ; Christine Klein [Allemagne] ; Rejko Kruger [Allemagne] ; Elli Kyratzi [Grèce] ; Suzanne Lesage [France] ; Chin-Hsien Lin [Taïwan] ; Timothy Lynch [Irlande (pays)] ; Demetrius M. Maraganore [États-Unis] ; George D. Mellick [Australie] ; Eugénie Mutez [France] ; Christer Nilsson [Suède] ; Grzegorz Opala [Pologne] ; Sung Sup Park [Corée du Sud] ; Andreas Puschmann [Suède] ; Aldo Quattrone [Italie] ; Manu Sharma [Allemagne] ; Peter A. Silburn [Australie] ; Young Ho Sohn [Corée du Sud] ; Leonidas Stefanis [Grèce] ; Vera Tadic [Allemagne] ; Jessie Theuns [Belgique] ; Hiroyuki Tomiyama [Japon] ; Ryan J. Uitti [Suède] ; Enza Maria Valente [Italie] ; Simone Van De Loo [Allemagne] ; Demetrios K. Vassilatis [Grèce] ; Carles Vilari O-Güell [Canada] ; Linda R. White [Norvège] ; Karin Wirdefelt [Suède] ; Zbigniew K. Wszolek [États-Unis] ; Ruey-Meei Wu [Taïwan] ; Matthew J. Farrer [États-Unis, Canada]Source :
- Lancet neurology [ 1474-4422 ] ; 2011.
Abstract
Leucine-rich repeat kinase 2 (
We examined the frequency pathogenicity of 121 exonic
Excluding carriers of previously known pathogenic mutations, new independent risk associations were found for polymorphic variants in Caucasian (p.M1646T, OR: 1.43, 95% CI: 1.15 – 1.78, P=0.0012) and Asian (p.A419V, OR: 2.27, 95% CI: 1.35 – 3.83, P=0.0011) populations. In addition, a protective haplotype was observed at >5% frequency (p.N551K-p.R1398H-p.K1423K) in the Caucasian and Asian series’, with a similar finding in the small Arab-Berber series that requires further study (combined 3-series OR: 0.82, 95% CI: 0.72 – 0.94, P=0.0043). Of the two previously reported Asian risk variants p.G2385R was found to be associated with disease (OR: 1.73, 95% CI: 1.20 – 2.49, P=0.0026) but no association was observed for p.R1628P (OR: 0.62, 95% CI: 0.36 – 1.07, P=0.087). Also in the Arab-Berber series, p.Y2189C showed potential evidence of risk association with PD (OR: 4.48, 95% CI: 1.33 – 15.09, P=0.012). Of note, two variants (p.I1371V and p.T2356I) which have been previously proposed as pathogenic were observed in patient and control subjects at the same frequency.
The present study and original funding for the GEO-PD Consortium was supported by grants from Michael J. Fox Foundation. Studies at individual sites were supported by a number of funding agencies world-wide.
Url:
DOI: 10.1016/S1474-4422(11)70175-2
PubMed: 21885347
PubMed Central: 3208320
Affiliations:
- Afrique du Sud, Allemagne, Australie, Belgique, Canada, Corée du Sud, France, Grèce, Irlande (pays), Italie, Japon, Norvège, Pologne, Royaume-Uni, Suède, Taïwan, États-Unis
- Angleterre, Californie, Floride, Hauts-de-France, Minnesota, Nord-Pas-de-Calais, Province d'Anvers, Région flamande, Svealand, Trøndelag, État de New York, Île-de-France
- Anvers, Lille, Paris, Stockholm, Séoul, Tokyo, Trondheim
- Université d'Anvers
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PMC:3208320Le document en format XML
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<author><name sortKey="Brighina, Laura" sort="Brighina, Laura" uniqKey="Brighina L" first="Laura" last="Brighina">Laura Brighina</name>
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<author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name>
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<author><name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille</wicri:regionArea>
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<author><name sortKey="Dardiotis, Efthimios" sort="Dardiotis, Efthimios" uniqKey="Dardiotis E" first="Efthimios" last="Dardiotis">Efthimios Dardiotis</name>
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<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A19">Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
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<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="A1">Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
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<author><name sortKey="Diehl, Nancy N" sort="Diehl, Nancy N" uniqKey="Diehl N" first="Nancy N." last="Diehl">Nancy N. Diehl</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Division of Biostatistics, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Biostatistics, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name>
<affiliation wicri:level="3"><nlm:aff id="A20">INSERM, U708, Neuroepidemiology, F-75005, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U708, Neuroepidemiology, F-75005, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A21">UPMC University of Paris 06, UMR_S708, Neuroepidemiology, F-75005, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>UPMC University of Paris 06, UMR_S708, Neuroepidemiology, F-75005, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Ferrarese, Carlo" sort="Ferrarese, Carlo" uniqKey="Ferrarese C" first="Carlo" last="Ferrarese">Carlo Ferrarese</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, Monza</wicri:regionArea>
<wicri:noRegion>Monza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name>
<affiliation wicri:level="1"><nlm:aff id="A22">IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Fiske, Brian" sort="Fiske, Brian" uniqKey="Fiske B" first="Brian" last="Fiske">Brian Fiske</name>
<affiliation wicri:level="2"><nlm:aff id="A23">The Michael J Fox Foundation for Parkinson’s Research, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Michael J Fox Foundation for Parkinson’s Research, New York, NY</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gibson, J Mark" sort="Gibson, J Mark" uniqKey="Gibson J" first="J. Mark" last="Gibson">J. Mark Gibson</name>
<affiliation wicri:level="1"><nlm:aff id="A24">Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</nlm:aff>
<country xml:lang="fr">Irlande (pays)</country>
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<wicri:noRegion>Belfast</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gibson, Rachel" sort="Gibson, Rachel" uniqKey="Gibson R" first="Rachel" last="Gibson">Rachel Gibson</name>
<affiliation wicri:level="2"><nlm:aff id="A25">Research and Development, GlaxoSmithKline Pharmaceuticals Ltd., Harlow, England</nlm:aff>
<country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>Research and Development, GlaxoSmithKline Pharmaceuticals Ltd., Harlow</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<affiliation wicri:level="1"><nlm:aff id="A18">Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa</wicri:regionArea>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A19">Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation wicri:level="3"><nlm:aff id="A26">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
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<author><name sortKey="Ioannidis, John P A" sort="Ioannidis, John P A" uniqKey="Ioannidis J" first="John P. A." last="Ioannidis">John P. A. Ioannidis</name>
<affiliation wicri:level="1"><nlm:aff id="A27">Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina</wicri:regionArea>
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<affiliation wicri:level="2"><nlm:aff id="A28">Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA</wicri:regionArea>
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</placeName>
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<author><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
<affiliation wicri:level="1"><nlm:aff id="A29">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurology, Medical University of Silesia, Katowice</wicri:regionArea>
<wicri:noRegion>Katowice</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S." last="Jeon">Beom S. Jeon</name>
<affiliation wicri:level="1"><nlm:aff id="A30">Department of Neurology, Seoul National University Hospital, Seoul 110-744, South Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Neurology, Seoul National University Hospital, Seoul 110-744</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kim, Yun Joong" sort="Kim, Yun Joong" uniqKey="Kim Y" first="Yun Joong" last="Kim">Yun Joong Kim</name>
<affiliation wicri:level="1"><nlm:aff id="A31">ILSONG Institute of Life Science and Department of Neurology, Hallym University, Anyang, South Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>ILSONG Institute of Life Science and Department of Neurology, Hallym University, Anyang</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation wicri:level="1"><nlm:aff id="A32">Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Kruger">Rejko Kruger</name>
<affiliation wicri:level="1"><nlm:aff id="A33">Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen</wicri:regionArea>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kyratzi, Elli" sort="Kyratzi, Elli" uniqKey="Kyratzi E" first="Elli" last="Kyratzi">Elli Kyratzi</name>
<affiliation wicri:level="1"><nlm:aff id="A34">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527</wicri:regionArea>
<wicri:noRegion>Athens 11527</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<affiliation wicri:level="3"><nlm:aff id="A8">Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, UMR-S975, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, UMR-S975, 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>
<affiliation wicri:level="3"><nlm:aff id="A9">Inserm, U975, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm, U975, 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>
<affiliation wicri:level="3"><nlm:aff id="A10">Cnrs, UMR 7225, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Cnrs, UMR 7225, 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="Lin, Chin Hsien" sort="Lin, Chin Hsien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name>
<affiliation wicri:level="1"><nlm:aff id="A35">Department of Neurology, National Taiwan University Hospital Yun-Lin Branch, Yun-Lin, Taiwan</nlm:aff>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Neurology, National Taiwan University Hospital Yun-Lin Branch, Yun-Lin</wicri:regionArea>
<wicri:noRegion>Yun-Lin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name>
<affiliation wicri:level="1"><nlm:aff id="A36">Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</nlm:aff>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin</wicri:regionArea>
<wicri:noRegion>University College Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name>
<affiliation wicri:level="2"><nlm:aff id="A37">Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name>
<affiliation wicri:level="1"><nlm:aff id="A38">Eskitis Institute for Cell and Molecular Therapies, Griffith University, Queensland, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Eskitis Institute for Cell and Molecular Therapies, Griffith University, Queensland</wicri:regionArea>
<wicri:noRegion>Queensland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name>
<affiliation wicri:level="3"><nlm:aff id="A16">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille</wicri:regionArea>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A17">INSERM, U837, Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U837, Lille</wicri:regionArea>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A39">Centre Hospitalier Regional Universitaire de Lille, 59037 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre Hospitalier Regional Universitaire de Lille, 59037 Lille</wicri:regionArea>
<placeName><region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nilsson, Christer" sort="Nilsson, Christer" uniqKey="Nilsson C" first="Christer" last="Nilsson">Christer Nilsson</name>
<affiliation wicri:level="1"><nlm:aff id="A40">Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Clinical Science, Section of Geriatric Psychiatry, Lund University</wicri:regionArea>
<wicri:noRegion>Lund University</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name>
<affiliation wicri:level="1"><nlm:aff id="A29">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurology, Medical University of Silesia, Katowice</wicri:regionArea>
<wicri:noRegion>Katowice</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Park, Sung Sup" sort="Park, Sung Sup" uniqKey="Park S" first="Sung Sup" last="Park">Sung Sup Park</name>
<affiliation wicri:level="1"><nlm:aff id="A41">Department of Laboratory Medicine, Seoul National University Hospital, Seoul 110-744, South Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Laboratory Medicine, Seoul National University Hospital, Seoul 110-744</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<affiliation wicri:level="1"><nlm:aff id="A40">Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Clinical Science, Section of Geriatric Psychiatry, Lund University</wicri:regionArea>
<wicri:noRegion>Lund University</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A42">Department of Neurology, Lund, Skåne University Hospital, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Neurology, Lund, Skåne University Hospital</wicri:regionArea>
<wicri:noRegion>Skåne University Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
<affiliation wicri:level="1"><nlm:aff id="A43">Department of Medical Sciences, Institute of Neurology, University Magna Graecia, and Neuroimaging Research Unit, National Research Council, Catanzaro, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Medical Sciences, Institute of Neurology, University Magna Graecia, and Neuroimaging Research Unit, National Research Council, Catanzaro</wicri:regionArea>
<wicri:noRegion>Catanzaro</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name>
<affiliation wicri:level="1"><nlm:aff id="A33">Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen</wicri:regionArea>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name>
<affiliation wicri:level="1"><nlm:aff id="A44">University of Queensland, Centre for Clinical Research, Royal Brisbane Hospital, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>University of Queensland, Centre for Clinical Research, Royal Brisbane Hospital</wicri:regionArea>
<wicri:noRegion>Royal Brisbane Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sohn, Young Ho" sort="Sohn, Young Ho" uniqKey="Sohn Y" first="Young Ho" last="Sohn">Young Ho Sohn</name>
<affiliation wicri:level="3"><nlm:aff id="A45">Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Neurology, Yonsei University College of Medicine, Seoul</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stefanis, Leonidas" sort="Stefanis, Leonidas" uniqKey="Stefanis L" first="Leonidas" last="Stefanis">Leonidas Stefanis</name>
<affiliation wicri:level="1"><nlm:aff id="A34">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527</wicri:regionArea>
<wicri:noRegion>Athens 11527</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name>
<affiliation wicri:level="1"><nlm:aff id="A32">Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea>
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<wicri:noRegion>University of Luebeck</wicri:noRegion>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name>
<affiliation wicri:level="1"><nlm:aff id="A13">Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerpen</wicri:regionArea>
<wicri:noRegion>Antwerpen</wicri:noRegion>
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<affiliation wicri:level="4"><nlm:aff id="A14">Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
<affiliation wicri:level="3"><nlm:aff id="A26">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<affiliation wicri:level="3"><nlm:aff id="A48">Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
<affiliation wicri:level="1"><nlm:aff id="A22">IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo</wicri:regionArea>
<wicri:noRegion>San Giovanni Rotondo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van De Loo, Simone" sort="Van De Loo, Simone" uniqKey="Van De Loo S" first="Simone" last="Van De Loo">Simone Van De Loo</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Department of Neurology, Goethe University Frankfurt am Main, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Goethe University Frankfurt am Main</wicri:regionArea>
<wicri:noRegion>Goethe University Frankfurt am Main</wicri:noRegion>
<wicri:noRegion>Goethe University Frankfurt am Main</wicri:noRegion>
<wicri:noRegion>Goethe University Frankfurt am Main</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vassilatis, Demetrios K" sort="Vassilatis, Demetrios K" uniqKey="Vassilatis D" first="Demetrios K." last="Vassilatis">Demetrios K. Vassilatis</name>
<affiliation wicri:level="1"><nlm:aff id="A34">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527</wicri:regionArea>
<wicri:noRegion>Athens 11527</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
<affiliation wicri:level="1"><nlm:aff id="A46">Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC</wicri:regionArea>
<wicri:noRegion>V5Z 4H4 BC</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="White, Linda R" sort="White, Linda R" uniqKey="White L" first="Linda R." last="White">Linda R. White</name>
<affiliation wicri:level="3"><nlm:aff id="A47">University Hospital and NTNU, Trondheim, Norway</nlm:aff>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>University Hospital and NTNU, Trondheim</wicri:regionArea>
<placeName><settlement type="city">Trondheim</settlement>
<region type="région" nuts="2">Trøndelag</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wirdefelt, Karin" sort="Wirdefelt, Karin" uniqKey="Wirdefelt K" first="Karin" last="Wirdefelt">Karin Wirdefelt</name>
<affiliation wicri:level="3"><nlm:aff id="A48">Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="2"><nlm:aff id="A49">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name>
<affiliation wicri:level="1"><nlm:aff id="A50">Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</nlm:aff>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
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</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A46">Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Division of Biostatistics, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Biostatistics, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name>
<affiliation wicri:level="3"><nlm:aff id="A3">Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</nlm:aff>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim</wicri:regionArea>
<placeName><settlement type="city">Trondheim</settlement>
<region type="région" nuts="2">Trøndelag</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Abahuni, Nadine" sort="Abahuni, Nadine" uniqKey="Abahuni N" first="Nadine" last="Abahuni">Nadine Abahuni</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Department of Neurology, Goethe University Frankfurt am Main, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Goethe University Frankfurt am Main</wicri:regionArea>
<wicri:noRegion>Goethe University Frankfurt am Main</wicri:noRegion>
<wicri:noRegion>Goethe University Frankfurt am Main</wicri:noRegion>
<wicri:noRegion>Goethe University Frankfurt am Main</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name>
<affiliation><nlm:aff id="A5">Institute of Neurological Sciences, National Research Council, Cosenza Italy</nlm:aff>
<wicri:noCountry code="subfield">Cosenza Italy</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Division of Molecular Biology and Human Genetics, University of Stellenbosch, Cape Town, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Division of Molecular Biology and Human Genetics, University of Stellenbosch, Cape Town</wicri:regionArea>
<wicri:noRegion>Cape Town</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bozi, Maria" sort="Bozi, Maria" uniqKey="Bozi M" first="Maria" last="Bozi">Maria Bozi</name>
<affiliation wicri:level="1"><nlm:aff id="A7">General Hospital of Syros, Syros, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>General Hospital of Syros, Syros</wicri:regionArea>
<wicri:noRegion>Syros</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation wicri:level="3"><nlm:aff id="A8">Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, UMR-S975, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, UMR-S975, 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>
<affiliation wicri:level="3"><nlm:aff id="A9">Inserm, U975, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm, U975, 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>
<affiliation wicri:level="3"><nlm:aff id="A10">Cnrs, UMR 7225, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Cnrs, UMR 7225, 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>
<affiliation wicri:level="3"><nlm:aff id="A11">AP-HP, Hôpital de la Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>AP-HP, Hôpital de la Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brighina, Laura" sort="Brighina, Laura" uniqKey="Brighina L" first="Laura" last="Brighina">Laura Brighina</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, Monza</wicri:regionArea>
<wicri:noRegion>Monza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name>
<affiliation wicri:level="1"><nlm:aff id="A13">Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerpen</wicri:regionArea>
<wicri:noRegion>Antwerpen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A14">Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name>
<affiliation wicri:level="1"><nlm:aff id="A15">Division of Neurology, University of Stellenbosch, Cape Town, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Division of Neurology, University of Stellenbosch, Cape Town</wicri:regionArea>
<wicri:noRegion>Cape Town</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name>
<affiliation wicri:level="3"><nlm:aff id="A16">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille</wicri:regionArea>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A17">INSERM, U837, Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U837, Lille</wicri:regionArea>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dardiotis, Efthimios" sort="Dardiotis, Efthimios" uniqKey="Dardiotis E" first="Efthimios" last="Dardiotis">Efthimios Dardiotis</name>
<affiliation wicri:level="1"><nlm:aff id="A18">Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa</wicri:regionArea>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A19">Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Institute of Biomedical Research & Technology, CERETETH, Larissa</wicri:regionArea>
<wicri:noRegion>Larissa</wicri:noRegion>
</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="A1">Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Diehl, Nancy N" sort="Diehl, Nancy N" uniqKey="Diehl N" first="Nancy N." last="Diehl">Nancy N. Diehl</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Division of Biostatistics, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Biostatistics, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name>
<affiliation wicri:level="3"><nlm:aff id="A20">INSERM, U708, Neuroepidemiology, F-75005, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U708, Neuroepidemiology, F-75005, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A21">UPMC University of Paris 06, UMR_S708, Neuroepidemiology, F-75005, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>UPMC University of Paris 06, UMR_S708, Neuroepidemiology, F-75005, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ferrarese, Carlo" sort="Ferrarese, Carlo" uniqKey="Ferrarese C" first="Carlo" last="Ferrarese">Carlo Ferrarese</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neuroscience-Section of Neurology, University of Milano-Bicocca, San Gerardo Hospital, Monza</wicri:regionArea>
<wicri:noRegion>Monza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name>
<affiliation wicri:level="1"><nlm:aff id="A22">IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo</wicri:regionArea>
<wicri:noRegion>San Giovanni Rotondo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fiske, Brian" sort="Fiske, Brian" uniqKey="Fiske B" first="Brian" last="Fiske">Brian Fiske</name>
<affiliation wicri:level="2"><nlm:aff id="A23">The Michael J Fox Foundation for Parkinson’s Research, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Michael J Fox Foundation for Parkinson’s Research, New York, NY</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gibson, J Mark" sort="Gibson, J Mark" uniqKey="Gibson J" first="J. Mark" last="Gibson">J. Mark Gibson</name>
<affiliation wicri:level="1"><nlm:aff id="A24">Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</nlm:aff>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Department of Neurology, Royal Victoria Hospital, Belfast</wicri:regionArea>
<wicri:noRegion>Belfast</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gibson, Rachel" sort="Gibson, Rachel" uniqKey="Gibson R" first="Rachel" last="Gibson">Rachel Gibson</name>
<affiliation wicri:level="2"><nlm:aff id="A25">Research and Development, GlaxoSmithKline Pharmaceuticals Ltd., Harlow, England</nlm:aff>
<country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>Research and Development, GlaxoSmithKline Pharmaceuticals Ltd., Harlow</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<affiliation wicri:level="1"><nlm:aff id="A18">Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, Larissa</wicri:regionArea>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A19">Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Institute of Biomedical Research & Technology, CERETETH, Larissa</wicri:regionArea>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation wicri:level="3"><nlm:aff id="A26">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ioannidis, John P A" sort="Ioannidis, John P A" uniqKey="Ioannidis J" first="John P. A." last="Ioannidis">John P. A. Ioannidis</name>
<affiliation wicri:level="1"><nlm:aff id="A27">Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina</wicri:regionArea>
<wicri:noRegion>Ioannina</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A28">Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
<affiliation wicri:level="1"><nlm:aff id="A29">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurology, Medical University of Silesia, Katowice</wicri:regionArea>
<wicri:noRegion>Katowice</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S." last="Jeon">Beom S. Jeon</name>
<affiliation wicri:level="1"><nlm:aff id="A30">Department of Neurology, Seoul National University Hospital, Seoul 110-744, South Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Neurology, Seoul National University Hospital, Seoul 110-744</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kim, Yun Joong" sort="Kim, Yun Joong" uniqKey="Kim Y" first="Yun Joong" last="Kim">Yun Joong Kim</name>
<affiliation wicri:level="1"><nlm:aff id="A31">ILSONG Institute of Life Science and Department of Neurology, Hallym University, Anyang, South Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>ILSONG Institute of Life Science and Department of Neurology, Hallym University, Anyang</wicri:regionArea>
<wicri:noRegion>Anyang</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation wicri:level="1"><nlm:aff id="A32">Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Kruger">Rejko Kruger</name>
<affiliation wicri:level="1"><nlm:aff id="A33">Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen</wicri:regionArea>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kyratzi, Elli" sort="Kyratzi, Elli" uniqKey="Kyratzi E" first="Elli" last="Kyratzi">Elli Kyratzi</name>
<affiliation wicri:level="1"><nlm:aff id="A34">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527</wicri:regionArea>
<wicri:noRegion>Athens 11527</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<affiliation wicri:level="3"><nlm:aff id="A8">Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, UMR-S975, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, UMR-S975, 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>
<affiliation wicri:level="3"><nlm:aff id="A9">Inserm, U975, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm, U975, 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>
<affiliation wicri:level="3"><nlm:aff id="A10">Cnrs, UMR 7225, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Cnrs, UMR 7225, 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="Lin, Chin Hsien" sort="Lin, Chin Hsien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name>
<affiliation wicri:level="1"><nlm:aff id="A35">Department of Neurology, National Taiwan University Hospital Yun-Lin Branch, Yun-Lin, Taiwan</nlm:aff>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Neurology, National Taiwan University Hospital Yun-Lin Branch, Yun-Lin</wicri:regionArea>
<wicri:noRegion>Yun-Lin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name>
<affiliation wicri:level="1"><nlm:aff id="A36">Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</nlm:aff>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute of Biomolecular & Biomedical Research, University College Dublin</wicri:regionArea>
<wicri:noRegion>University College Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name>
<affiliation wicri:level="2"><nlm:aff id="A37">Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name>
<affiliation wicri:level="1"><nlm:aff id="A38">Eskitis Institute for Cell and Molecular Therapies, Griffith University, Queensland, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Eskitis Institute for Cell and Molecular Therapies, Griffith University, Queensland</wicri:regionArea>
<wicri:noRegion>Queensland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name>
<affiliation wicri:level="3"><nlm:aff id="A16">University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Lille Nord de France, Centre de recherche Jean-Pierre Aubert, Lille</wicri:regionArea>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A17">INSERM, U837, Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U837, Lille</wicri:regionArea>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A39">Centre Hospitalier Regional Universitaire de Lille, 59037 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre Hospitalier Regional Universitaire de Lille, 59037 Lille</wicri:regionArea>
<placeName><region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nilsson, Christer" sort="Nilsson, Christer" uniqKey="Nilsson C" first="Christer" last="Nilsson">Christer Nilsson</name>
<affiliation wicri:level="1"><nlm:aff id="A40">Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Clinical Science, Section of Geriatric Psychiatry, Lund University</wicri:regionArea>
<wicri:noRegion>Lund University</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name>
<affiliation wicri:level="1"><nlm:aff id="A29">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurology, Medical University of Silesia, Katowice</wicri:regionArea>
<wicri:noRegion>Katowice</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Park, Sung Sup" sort="Park, Sung Sup" uniqKey="Park S" first="Sung Sup" last="Park">Sung Sup Park</name>
<affiliation wicri:level="1"><nlm:aff id="A41">Department of Laboratory Medicine, Seoul National University Hospital, Seoul 110-744, South Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Laboratory Medicine, Seoul National University Hospital, Seoul 110-744</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<affiliation wicri:level="1"><nlm:aff id="A40">Department of Clinical Science, Section of Geriatric Psychiatry, Lund University, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Clinical Science, Section of Geriatric Psychiatry, Lund University</wicri:regionArea>
<wicri:noRegion>Lund University</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A42">Department of Neurology, Lund, Skåne University Hospital, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Neurology, Lund, Skåne University Hospital</wicri:regionArea>
<wicri:noRegion>Skåne University Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
<affiliation wicri:level="1"><nlm:aff id="A43">Department of Medical Sciences, Institute of Neurology, University Magna Graecia, and Neuroimaging Research Unit, National Research Council, Catanzaro, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Medical Sciences, Institute of Neurology, University Magna Graecia, and Neuroimaging Research Unit, National Research Council, Catanzaro</wicri:regionArea>
<wicri:noRegion>Catanzaro</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name>
<affiliation wicri:level="1"><nlm:aff id="A33">Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department for Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases (DZNE), University of Tübingen</wicri:regionArea>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
<wicri:noRegion>University of Tübingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name>
<affiliation wicri:level="1"><nlm:aff id="A44">University of Queensland, Centre for Clinical Research, Royal Brisbane Hospital, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>University of Queensland, Centre for Clinical Research, Royal Brisbane Hospital</wicri:regionArea>
<wicri:noRegion>Royal Brisbane Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sohn, Young Ho" sort="Sohn, Young Ho" uniqKey="Sohn Y" first="Young Ho" last="Sohn">Young Ho Sohn</name>
<affiliation wicri:level="3"><nlm:aff id="A45">Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Neurology, Yonsei University College of Medicine, Seoul</wicri:regionArea>
<placeName><settlement type="city">Séoul</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stefanis, Leonidas" sort="Stefanis, Leonidas" uniqKey="Stefanis L" first="Leonidas" last="Stefanis">Leonidas Stefanis</name>
<affiliation wicri:level="1"><nlm:aff id="A34">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527</wicri:regionArea>
<wicri:noRegion>Athens 11527</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name>
<affiliation wicri:level="1"><nlm:aff id="A32">Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name>
<affiliation wicri:level="1"><nlm:aff id="A13">Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerpen</wicri:regionArea>
<wicri:noRegion>Antwerpen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A14">Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
<affiliation wicri:level="3"><nlm:aff id="A26">Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<affiliation wicri:level="3"><nlm:aff id="A48">Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
<affiliation wicri:level="1"><nlm:aff id="A22">IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory, San Giovanni Rotondo</wicri:regionArea>
<wicri:noRegion>San Giovanni Rotondo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van De Loo, Simone" sort="Van De Loo, Simone" uniqKey="Van De Loo S" first="Simone" last="Van De Loo">Simone Van De Loo</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Department of Neurology, Goethe University Frankfurt am Main, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Goethe University Frankfurt am Main</wicri:regionArea>
<wicri:noRegion>Goethe University Frankfurt am Main</wicri:noRegion>
<wicri:noRegion>Goethe University Frankfurt am Main</wicri:noRegion>
<wicri:noRegion>Goethe University Frankfurt am Main</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vassilatis, Demetrios K" sort="Vassilatis, Demetrios K" uniqKey="Vassilatis D" first="Demetrios K." last="Vassilatis">Demetrios K. Vassilatis</name>
<affiliation wicri:level="1"><nlm:aff id="A34">Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Divisions of Basic Neurosciences and Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens 11527</wicri:regionArea>
<wicri:noRegion>Athens 11527</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
<affiliation wicri:level="1"><nlm:aff id="A46">Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC</wicri:regionArea>
<wicri:noRegion>V5Z 4H4 BC</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="White, Linda R" sort="White, Linda R" uniqKey="White L" first="Linda R." last="White">Linda R. White</name>
<affiliation wicri:level="3"><nlm:aff id="A47">University Hospital and NTNU, Trondheim, Norway</nlm:aff>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>University Hospital and NTNU, Trondheim</wicri:regionArea>
<placeName><settlement type="city">Trondheim</settlement>
<region type="région" nuts="2">Trøndelag</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wirdefelt, Karin" sort="Wirdefelt, Karin" uniqKey="Wirdefelt K" first="Karin" last="Wirdefelt">Karin Wirdefelt</name>
<affiliation wicri:level="3"><nlm:aff id="A48">Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Clinical Neuroscience and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="2"><nlm:aff id="A49">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name>
<affiliation wicri:level="1"><nlm:aff id="A50">Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</nlm:aff>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A46">Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4 BC</wicri:regionArea>
<wicri:noRegion>V5Z 4H4 BC</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Lancet neurology</title>
<idno type="ISSN">1474-4422</idno>
<idno type="eISSN">1474-4465</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P2">Leucine-rich repeat kinase 2 (<italic>LRRK2</italic>
) is known to harbor highly penetrant mutations linked to familial parkinsonism. However, its full polymorphic variability in relationship to Parkinson’s disease (PD) risk has not been systematically assessed.</p>
</sec>
<sec sec-type="methods" id="S2"><title>Methods</title>
<p id="P3">We examined the frequency pathogenicity of 121 exonic <italic>LRRK2</italic>
variants in three ethnic series (Caucasian [N=12,590], Asian [N=2,338] and Arab-Berber [N=612]) consisting of 8,611 patients and 6,929 control subjects from 23 separate sites of the Genetic Epidemiology of Parkinson’s Disease Consortium.</p>
</sec>
<sec id="S3"><title>Findings</title>
<p id="P4">Excluding carriers of previously known pathogenic mutations, new independent risk associations were found for polymorphic variants in Caucasian (p.M1646T, OR: 1.43, 95% CI: 1.15 – 1.78, P=0.0012) and Asian (p.A419V, OR: 2.27, 95% CI: 1.35 – 3.83, P=0.0011) populations. In addition, a protective haplotype was observed at >5% frequency (p.N551K-p.R1398H-p.K1423K) in the Caucasian and Asian series’, with a similar finding in the small Arab-Berber series that requires further study (combined 3-series OR: 0.82, 95% CI: 0.72 – 0.94, P=0.0043). Of the two previously reported Asian risk variants p.G2385R was found to be associated with disease (OR: 1.73, 95% CI: 1.20 – 2.49, P=0.0026) but no association was observed for p.R1628P (OR: 0.62, 95% CI: 0.36 – 1.07, P=0.087). Also in the Arab-Berber series, p.Y2189C showed potential evidence of risk association with PD (OR: 4.48, 95% CI: 1.33 – 15.09, P=0.012). Of note, two variants (p.I1371V and p.T2356I) which have been previously proposed as pathogenic were observed in patient and control subjects at the same frequency.</p>
</sec>
<sec id="S4"><title>Interpretation</title>
<p id="P5"><italic>LRRK2</italic>
offers an example where multiple rare and common genetic variants in the same gene have independent effects on disease risk. Lrrk2, and the pathway in which it functions, is important in the etiology and pathogenesis of a greater proportion of patients with PD than previously believed.</p>
</sec>
<sec id="S5"><title>Funding</title>
<p id="P6">The present study and original funding for the GEO-PD Consortium was supported by grants from Michael J. Fox Foundation. Studies at individual sites were supported by a number of funding agencies world-wide.</p>
</sec>
</div>
</front>
</TEI>
<affiliations><list><country><li>Afrique du Sud</li>
<li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>Canada</li>
<li>Corée du Sud</li>
<li>France</li>
<li>Grèce</li>
<li>Irlande (pays)</li>
<li>Italie</li>
<li>Japon</li>
<li>Norvège</li>
<li>Pologne</li>
<li>Royaume-Uni</li>
<li>Suède</li>
<li>Taïwan</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Californie</li>
<li>Floride</li>
<li>Hauts-de-France</li>
<li>Minnesota</li>
<li>Nord-Pas-de-Calais</li>
<li>Province d'Anvers</li>
<li>Région flamande</li>
<li>Svealand</li>
<li>Trøndelag</li>
<li>État de New York</li>
<li>Île-de-France</li>
</region>
<settlement><li>Anvers</li>
<li>Lille</li>
<li>Paris</li>
<li>Stockholm</li>
<li>Séoul</li>
<li>Tokyo</li>
<li>Trondheim</li>
</settlement>
<orgName><li>Université d'Anvers</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name>
</noCountry>
<country name="États-Unis"><region name="Floride"><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
</region>
<name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name>
<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<name sortKey="Diehl, Nancy N" sort="Diehl, Nancy N" uniqKey="Diehl N" first="Nancy N." last="Diehl">Nancy N. Diehl</name>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<name sortKey="Fiske, Brian" sort="Fiske, Brian" uniqKey="Fiske B" first="Brian" last="Fiske">Brian Fiske</name>
<name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name>
<name sortKey="Ioannidis, John P A" sort="Ioannidis, John P A" uniqKey="Ioannidis J" first="John P. A." last="Ioannidis">John P. A. Ioannidis</name>
<name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name>
<name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</country>
<country name="Norvège"><region name="Trøndelag"><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name>
</region>
<name sortKey="White, Linda R" sort="White, Linda R" uniqKey="White L" first="Linda R." last="White">Linda R. White</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Abahuni, Nadine" sort="Abahuni, Nadine" uniqKey="Abahuni N" first="Nadine" last="Abahuni">Nadine Abahuni</name>
</noRegion>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Kruger">Rejko Kruger</name>
<name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name>
<name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name>
<name sortKey="Van De Loo, Simone" sort="Van De Loo, Simone" uniqKey="Van De Loo S" first="Simone" last="Van De Loo">Simone Van De Loo</name>
</country>
<country name="Afrique du Sud"><noRegion><name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name>
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<name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
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