A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
Identifieur interne : 001131 ( Main/Curation ); précédent : 001130; suivant : 001132A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
Auteurs : Manu Sharma ; John P A. Ioannidis [États-Unis] ; Jan O. Aasly [Norvège] ; Grazia Annesi [Italie] ; Alexis Brice [France] ; Lars Bertram [Allemagne] ; Maria Bozi [Grèce] ; Maria Barcikowska [Pologne] ; David Crosiers [Belgique] ; Carl E. Clarke [Royaume-Uni] ; Maurizio F. Facheris ; Matthew Farrer [Canada] ; Gaetan Garraux ; Suzana Gispert [Allemagne] ; Georg Auburger ; Carles Vilari O-Güell [Canada] ; Georgios M. Hadjigeorgiou [Grèce] ; Andrew A. Hicks ; Nobutaka Hattori [Japon] ; Beom S. Jeon [Corée du Sud] ; Zygmunt Jamrozik [Pologne] ; Anna Krygowska-Wajs [Pologne] ; Suzanne Lesage [France] ; Christina M. Lill [Grèce, Allemagne] ; Juei-Jueng Lin [Taïwan] ; Timothy Lynch [Irlande (pays)] ; Peter Lichtner [Allemagne] ; Anthony E. Lang [Canada] ; Cecile Libioulle [Canada] ; Miho Murata [Japon] ; Vincent Mok [Hong Kong] ; Barbara Jasinska-Myga [Pologne] ; George D. Mellick [Australie] ; Karen E. Morrison [Royaume-Uni] ; Thomas Meitnger [Allemagne] ; Alexander Zimprich [Autriche] ; Grzegorz Opala [Allemagne] ; Peter P. Pramstaller ; Irene Pichler ; Sung Sup Park [Allemagne] ; Aldo Quattrone [Italie] ; Ekaterina Rogaeva [Canada] ; Owen A. Ross [États-Unis] ; Leonidas Stefanis [Grèce] ; Joanne D. Stockton [Royaume-Uni] ; Wataru Satake [Japon] ; Peter A. Silburn [Australie] ; Tim M. Strom [Allemagne, Canada] ; Jessie Theuns [Belgique] ; Eng- King Tan [Singapour] ; Tatsushi Toda [Japon] ; Hiroyuki Tomiyama [Japon] ; Ryan J. Uitti [États-Unis] ; Christine Van Broeckhoven [Belgique] ; Karin Wirdefeldt ; Zbigniew Wszolek [États-Unis] ; Georgia Xiromerisiou [Grèce] ; Harumi S. Yomono [Japon] ; Kuo-Chu Yueh [Taïwan] ; Yi Zhao ; Thomas Gasser ; Demetrius Maraganore [États-Unis] ; Rejko KrügerSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2012-11.
Abstract
Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive. Methods and results We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any significant increased risk for p.Leu774Met and p.Gly51Ser in our cohort. Conclusions Our study apart from identifying the p.Asp620Asn variant in familial cases also identified it in idiopathic Parkinson disease cases, and thus provides genetic evidence for a role of p.Asp620Asn in Parkinson disease in different populations worldwide.
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DOI: 10.1136/jmedgenet-2012-101155
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Manu Sharma<affiliation><mods:affiliation>Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</mods:affiliation><wicri:noCountry code="subField">Tübingen</wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtriére Hospital</mods:affiliation><wicri:noCountry code="subField">alpêtriére Hospital</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Cnrs, UMR 7225, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Cnrs, UMR 7225, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris</wicri:regionArea></affiliation><affiliation><mods:affiliation>Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</mods:affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation><affiliation><mods:affiliation>Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</mods:affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtriére Hospital</mods:affiliation><wicri:noCountry code="subField">alpêtriére Hospital</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Cnrs, UMR 7225, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Cnrs, UMR 7225, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris</wicri:regionArea></affiliation><affiliation><mods:affiliation>Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</mods:affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham</wicri:regionArea></affiliation><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation><affiliation><mods:affiliation>Epidemiology and Biostatistics and Department of Clinical Neuroscience, Karolinska Institutet</mods:affiliation><wicri:noCountry code="subField">Karolinska Institutet</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</mods:affiliation><wicri:noCountry code="subField">Tübingen</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</mods:affiliation><wicri:noCountry code="subField">Tübingen</wicri:noCountry></affiliation>Le document en format XML
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Ioannidis</name><affiliation wicri:level="1"><mods:affiliation>Stanford Prevention Research Center, Department of Medicine and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Stanford Prevention Research Center, Department of Medicine and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California</wicri:regionArea></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. 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Clarke</name><affiliation wicri:level="1"><mods:affiliation>School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, City Hospital, Birmingham, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, City Hospital, Birmingham</wicri:regionArea></affiliation></author><author><name sortKey="Facheris, Maurizio F" sort="Facheris, Maurizio F" uniqKey="Facheris M" first="Maurizio F" last="Facheris">Maurizio F. Facheris</name><affiliation><mods:affiliation>Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</mods:affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea></affiliation></author><author><name sortKey="Garraux, Gaetan" sort="Garraux, Gaetan" uniqKey="Garraux G" first="Gaetan" last="Garraux">Gaetan Garraux</name><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation></author><author><name sortKey="Gispert, Suzana" sort="Gispert, Suzana" uniqKey="Gispert S" first="Suzana" last="Gispert">Suzana Gispert</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Goethe University Frankfurt am Main, Frankfurt, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Goethe University Frankfurt am Main, Frankfurt</wicri:regionArea></affiliation></author><author><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></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"><mods:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea></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"><mods:affiliation>Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa</wicri:regionArea></affiliation></author><author><name sortKey="Hicks, Andrew A" sort="Hicks, Andrew A" uniqKey="Hicks A" first="Andrew A" last="Hicks">Andrew A. Hicks</name><affiliation><mods:affiliation>Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</mods:affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea></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"><mods:affiliation>Department of Neurology, Seoul National University Hospital, Seoul, Korea</mods:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Neurology, Seoul National University Hospital, Seoul</wicri:regionArea></affiliation></author><author><name sortKey="Jamrozik, Zygmunt" sort="Jamrozik, Zygmunt" uniqKey="Jamrozik Z" first="Zygmunt" last="Jamrozik">Zygmunt Jamrozik</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Medical University of Warsaw, Warsaw, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Medical University of Warsaw, Warsaw</wicri:regionArea></affiliation></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Jagiellonian University, Krakow, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Jagiellonian University, Krakow</wicri:regionArea></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><mods:affiliation>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtriére Hospital</mods:affiliation><wicri:noCountry code="subField">alpêtriére Hospital</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Cnrs, UMR 7225, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Cnrs, UMR 7225, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Lill, Christina M" sort="Lill, Christina M" uniqKey="Lill C" first="Christina M" last="Lill">Christina M. Lill</name><affiliation wicri:level="1"><mods:affiliation>General Hospital of Syros, Syros, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>General Hospital of Syros, Syros</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Johannes Gutenberg University, Mainz, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Johannes Gutenberg University, Mainz</wicri:regionArea></affiliation></author><author><name sortKey="Lin, Juei Jueng" sort="Lin, Juei Jueng" uniqKey="Lin J" first="Juei-Jueng" last="Lin">Juei-Jueng Lin</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung</wicri:regionArea></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation wicri:level="1"><mods:affiliation>The Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute, University College Dublin, Dublin, Ireland</mods:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>The Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute, University College Dublin, Dublin</wicri:regionArea></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation wicri:level="1"><mods:affiliation>Helmholtz Zentrum München, German Research Centre for Environmental Health (Gmbh), Neuherberg, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Helmholtz Zentrum München, German Research Centre for Environmental Health (Gmbh), Neuherberg</wicri:regionArea></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name><affiliation wicri:level="1"><mods:affiliation>Movement Disorders Centre, and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Movement Disorders Centre, and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto</wicri:regionArea></affiliation></author><author><name sortKey="Libioulle, Cecile" sort="Libioulle, Cecile" uniqKey="Libioulle C" first="Cecile" last="Libioulle">Cecile Libioulle</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea></affiliation></author><author><name sortKey="Murata, Miho" sort="Murata, Miho" uniqKey="Murata M" first="Miho" last="Murata">Miho Murata</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, National Center Hospital of Neurology and Psychiatry, Tokyo</wicri:regionArea></affiliation></author><author><name sortKey="Mok, Vincent" sort="Mok, Vincent" uniqKey="Mok V" first="Vincent" last="Mok">Vincent Mok</name><affiliation wicri:level="1"><mods:affiliation>Department of Medicine and Therapeutics, Prince of Wales Hospital,The Chinese University of Hong Kong, Shatin, Hong Kong</mods:affiliation><country xml:lang="fr">Hong Kong</country><wicri:regionArea>Department of Medicine and Therapeutics, Prince of Wales Hospital,The Chinese University of Hong Kong, Shatin</wicri:regionArea></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"><mods:affiliation>Department of Neurology, Medical University of Silesia, Katowice, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Medical University of Silesia, Katowice</wicri:regionArea></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"><mods:affiliation>Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane</wicri:regionArea></affiliation></author><author><name sortKey="Morrison, Karen E" sort="Morrison, Karen E" uniqKey="Morrison K" first="Karen E" last="Morrison">Karen E. Morrison</name><affiliation><mods:affiliation>Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</mods:affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham</wicri:regionArea></affiliation></author><author><name sortKey="Meitnger, Thomas" sort="Meitnger, Thomas" uniqKey="Meitnger T" first="Thomas" last="Meitnger">Thomas Meitnger</name><affiliation wicri:level="1"><mods:affiliation>German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Technische Universität München, Munich, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Medizinische Universität Wien, Vienna, Austria</mods:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medizinische Universität Wien, Vienna</wicri:regionArea></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation wicri:level="1"><mods:affiliation>German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg</wicri:regionArea></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation></author><author><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></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"><mods:affiliation>Department of Neurology, Johannes Gutenberg University, Mainz, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Johannes Gutenberg University, Mainz</wicri:regionArea></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation wicri:level="1"><mods:affiliation>Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro</wicri:regionArea></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="1"><mods:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto</wicri:regionArea></affiliation></author><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"><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Neuroscience, Mayo Clinic, Jacksonville</wicri:cityArea></affiliation></author><author><name sortKey="Stefanis, Leonidas" sort="Stefanis, Leonidas" uniqKey="Stefanis L" first="Leonidas" last="Stefanis">Leonidas Stefanis</name><affiliation wicri:level="1"><mods:affiliation>2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Divisions of Basic Neurosciences & Cell Biology, Biomedical Research Foundation of Academy of Athens, Athens, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Divisions of Basic Neurosciences & Cell Biology, Biomedical Research Foundation of Academy of Athens, Athens</wicri:regionArea></affiliation></author><author><name sortKey="Stockton, Joanne D" sort="Stockton, Joanne D" uniqKey="Stockton J" first="Joanne D" last="Stockton">Joanne D. Stockton</name><affiliation wicri:level="1"><mods:affiliation>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham</wicri:regionArea></affiliation></author><author><name sortKey="Satake, Wataru" sort="Satake, Wataru" uniqKey="Satake W" first="Wataru" last="Satake">Wataru Satake</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe</wicri:regionArea></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"><mods:affiliation>University of Queensland Centre for Clinical Research, Herston, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>University of Queensland Centre for Clinical Research, Herston</wicri:regionArea></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Technische Universität München, Munich, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto</wicri:regionArea></affiliation></author><author><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name><affiliation wicri:level="1"><mods:affiliation>Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurology, Antwerp University Hospital, Antwerp</wicri:regionArea></affiliation></author><author><name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng- King" last="Tan">Eng- King Tan</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Singapore General Hospital, National Neuroscience Institute, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</wicri:regionArea></affiliation></author><author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe</wicri:regionArea></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea></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="1"><mods:affiliation>Department of Neurology, Mayo Clinic Jacksonville, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic Jacksonville</wicri:regionArea></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"><mods:affiliation>Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurology, Antwerp University Hospital, Antwerp</wicri:regionArea></affiliation></author><author><name sortKey="Wirdefeldt, Karin" sort="Wirdefeldt, Karin" uniqKey="Wirdefeldt K" first="Karin" last="Wirdefeldt">Karin Wirdefeldt</name><affiliation><mods:affiliation>Epidemiology and Biostatistics and Department of Clinical Neuroscience, Karolinska Institutet</mods:affiliation><wicri:noCountry code="subField">Karolinska Institutet</wicri:noCountry></affiliation></author><author><name sortKey="Wszolek, Zbigniew" sort="Wszolek, Zbigniew" uniqKey="Wszolek Z" first="Zbigniew" last="Wszolek">Zbigniew Wszolek</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mayo Clinic Jacksonville, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic Jacksonville</wicri:regionArea></affiliation></author><author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa</wicri:regionArea></affiliation></author><author><name sortKey="Yomono, Harumi S" sort="Yomono, Harumi S" uniqKey="Yomono H" first="Harumi S" last="Yomono">Harumi S. Yomono</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, National Hospital Organization Tokyo Hospital, Tokyo, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, National Hospital Organization Tokyo Hospital, Tokyo</wicri:regionArea></affiliation></author><author><name sortKey="Yueh, Kuo Chu" sort="Yueh, Kuo Chu" uniqKey="Yueh K" first="Kuo-Chu" last="Yueh">Kuo-Chu Yueh</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung</wicri:regionArea></affiliation></author><author><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation><mods:affiliation>Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</mods:affiliation><wicri:noCountry code="subField">Tübingen</wicri:noCountry></affiliation></author><author><name sortKey="Maraganore, Demetrius" sort="Maraganore, Demetrius" uniqKey="Maraganore D" first="Demetrius" last="Maraganore">Demetrius Maraganore</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, NorthShore University HealthSystem, Chicago, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, NorthShore University HealthSystem, Chicago</wicri:regionArea></affiliation></author><author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name><affiliation><mods:affiliation>Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</mods:affiliation><wicri:noCountry code="subField">Tübingen</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:1E80C3110D21541A237742CD339DD00EB1BB056D</idno><date when="2012" year="2012">2012</date><idno type="doi">10.1136/jmedgenet-2012-101155</idno><idno type="url">https://api.istex.fr/document/1E80C3110D21541A237742CD339DD00EB1BB056D/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001339</idno><idno type="wicri:Area/Main/Curation">001131</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants</title><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><affiliation><mods:affiliation>Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</mods:affiliation><wicri:noCountry code="subField">Tübingen</wicri:noCountry></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"><mods:affiliation>Stanford Prevention Research Center, Department of Medicine and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Stanford Prevention Research Center, Department of Medicine and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California</wicri:regionArea></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="1"><mods:affiliation>Department of Neurology, St Olavs Hospital and NTNU Trondheim, Trondheim, Norway</mods:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neurology, St Olavs Hospital and NTNU Trondheim, Trondheim</wicri:regionArea></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><affiliation wicri:level="1"><mods:affiliation>Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtriére Hospital</mods:affiliation><wicri:noCountry code="subField">alpêtriére Hospital</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Cnrs, UMR 7225, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Cnrs, UMR 7225, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Bertram, Lars" sort="Bertram, Lars" uniqKey="Bertram L" first="Lars" last="Bertram">Lars Bertram</name><affiliation wicri:level="1"><mods:affiliation>Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Bozi, Maria" sort="Bozi, Maria" uniqKey="Bozi M" first="Maria" last="Bozi">Maria Bozi</name><affiliation wicri:level="1"><mods:affiliation>General Hospital of Syros, Syros, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>General Hospital of Syros, Syros</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens</wicri:regionArea></affiliation></author><author><name sortKey="Barcikowska, Maria" sort="Barcikowska, Maria" uniqKey="Barcikowska M" first="Maria" last="Barcikowska">Maria Barcikowska</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw</wicri:regionArea></affiliation></author><author><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name><affiliation wicri:level="1"><mods:affiliation>Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurology, Antwerp University Hospital, Antwerp</wicri:regionArea></affiliation></author><author><name sortKey="Clarke, Carl E" sort="Clarke, Carl E" uniqKey="Clarke C" first="Carl E" last="Clarke">Carl E. Clarke</name><affiliation wicri:level="1"><mods:affiliation>School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, City Hospital, Birmingham, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, City Hospital, Birmingham</wicri:regionArea></affiliation></author><author><name sortKey="Facheris, Maurizio F" sort="Facheris, Maurizio F" uniqKey="Facheris M" first="Maurizio F" last="Facheris">Maurizio F. Facheris</name><affiliation><mods:affiliation>Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</mods:affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea></affiliation></author><author><name sortKey="Garraux, Gaetan" sort="Garraux, Gaetan" uniqKey="Garraux G" first="Gaetan" last="Garraux">Gaetan Garraux</name><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation></author><author><name sortKey="Gispert, Suzana" sort="Gispert, Suzana" uniqKey="Gispert S" first="Suzana" last="Gispert">Suzana Gispert</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Goethe University Frankfurt am Main, Frankfurt, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Goethe University Frankfurt am Main, Frankfurt</wicri:regionArea></affiliation></author><author><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></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"><mods:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea></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"><mods:affiliation>Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa</wicri:regionArea></affiliation></author><author><name sortKey="Hicks, Andrew A" sort="Hicks, Andrew A" uniqKey="Hicks A" first="Andrew A" last="Hicks">Andrew A. Hicks</name><affiliation><mods:affiliation>Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</mods:affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea></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"><mods:affiliation>Department of Neurology, Seoul National University Hospital, Seoul, Korea</mods:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Neurology, Seoul National University Hospital, Seoul</wicri:regionArea></affiliation></author><author><name sortKey="Jamrozik, Zygmunt" sort="Jamrozik, Zygmunt" uniqKey="Jamrozik Z" first="Zygmunt" last="Jamrozik">Zygmunt Jamrozik</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Medical University of Warsaw, Warsaw, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Medical University of Warsaw, Warsaw</wicri:regionArea></affiliation></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Jagiellonian University, Krakow, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Jagiellonian University, Krakow</wicri:regionArea></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><mods:affiliation>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtriére Hospital</mods:affiliation><wicri:noCountry code="subField">alpêtriére Hospital</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Cnrs, UMR 7225, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Cnrs, UMR 7225, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Lill, Christina M" sort="Lill, Christina M" uniqKey="Lill C" first="Christina M" last="Lill">Christina M. Lill</name><affiliation wicri:level="1"><mods:affiliation>General Hospital of Syros, Syros, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>General Hospital of Syros, Syros</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Johannes Gutenberg University, Mainz, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Johannes Gutenberg University, Mainz</wicri:regionArea></affiliation></author><author><name sortKey="Lin, Juei Jueng" sort="Lin, Juei Jueng" uniqKey="Lin J" first="Juei-Jueng" last="Lin">Juei-Jueng Lin</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung</wicri:regionArea></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation wicri:level="1"><mods:affiliation>The Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute, University College Dublin, Dublin, Ireland</mods:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>The Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute, University College Dublin, Dublin</wicri:regionArea></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation wicri:level="1"><mods:affiliation>Helmholtz Zentrum München, German Research Centre for Environmental Health (Gmbh), Neuherberg, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Helmholtz Zentrum München, German Research Centre for Environmental Health (Gmbh), Neuherberg</wicri:regionArea></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name><affiliation wicri:level="1"><mods:affiliation>Movement Disorders Centre, and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Movement Disorders Centre, and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto</wicri:regionArea></affiliation></author><author><name sortKey="Libioulle, Cecile" sort="Libioulle, Cecile" uniqKey="Libioulle C" first="Cecile" last="Libioulle">Cecile Libioulle</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea></affiliation></author><author><name sortKey="Murata, Miho" sort="Murata, Miho" uniqKey="Murata M" first="Miho" last="Murata">Miho Murata</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, National Center Hospital of Neurology and Psychiatry, Tokyo</wicri:regionArea></affiliation></author><author><name sortKey="Mok, Vincent" sort="Mok, Vincent" uniqKey="Mok V" first="Vincent" last="Mok">Vincent Mok</name><affiliation wicri:level="1"><mods:affiliation>Department of Medicine and Therapeutics, Prince of Wales Hospital,The Chinese University of Hong Kong, Shatin, Hong Kong</mods:affiliation><country xml:lang="fr">Hong Kong</country><wicri:regionArea>Department of Medicine and Therapeutics, Prince of Wales Hospital,The Chinese University of Hong Kong, Shatin</wicri:regionArea></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"><mods:affiliation>Department of Neurology, Medical University of Silesia, Katowice, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Medical University of Silesia, Katowice</wicri:regionArea></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"><mods:affiliation>Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane</wicri:regionArea></affiliation></author><author><name sortKey="Morrison, Karen E" sort="Morrison, Karen E" uniqKey="Morrison K" first="Karen E" last="Morrison">Karen E. Morrison</name><affiliation><mods:affiliation>Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</mods:affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham</wicri:regionArea></affiliation></author><author><name sortKey="Meitnger, Thomas" sort="Meitnger, Thomas" uniqKey="Meitnger T" first="Thomas" last="Meitnger">Thomas Meitnger</name><affiliation wicri:level="1"><mods:affiliation>German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Technische Universität München, Munich, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Medizinische Universität Wien, Vienna, Austria</mods:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medizinische Universität Wien, Vienna</wicri:regionArea></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation wicri:level="1"><mods:affiliation>German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg</wicri:regionArea></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation></author><author><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name><affiliation><mods:affiliation>Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</mods:affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></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"><mods:affiliation>Department of Neurology, Johannes Gutenberg University, Mainz, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Johannes Gutenberg University, Mainz</wicri:regionArea></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation wicri:level="1"><mods:affiliation>Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro</wicri:regionArea></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="1"><mods:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto</wicri:regionArea></affiliation></author><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"><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Neuroscience, Mayo Clinic, Jacksonville</wicri:cityArea></affiliation></author><author><name sortKey="Stefanis, Leonidas" sort="Stefanis, Leonidas" uniqKey="Stefanis L" first="Leonidas" last="Stefanis">Leonidas Stefanis</name><affiliation wicri:level="1"><mods:affiliation>2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Divisions of Basic Neurosciences & Cell Biology, Biomedical Research Foundation of Academy of Athens, Athens, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Divisions of Basic Neurosciences & Cell Biology, Biomedical Research Foundation of Academy of Athens, Athens</wicri:regionArea></affiliation></author><author><name sortKey="Stockton, Joanne D" sort="Stockton, Joanne D" uniqKey="Stockton J" first="Joanne D" last="Stockton">Joanne D. Stockton</name><affiliation wicri:level="1"><mods:affiliation>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham</wicri:regionArea></affiliation></author><author><name sortKey="Satake, Wataru" sort="Satake, Wataru" uniqKey="Satake W" first="Wataru" last="Satake">Wataru Satake</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe</wicri:regionArea></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"><mods:affiliation>University of Queensland Centre for Clinical Research, Herston, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>University of Queensland Centre for Clinical Research, Herston</wicri:regionArea></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Technische Universität München, Munich, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto</wicri:regionArea></affiliation></author><author><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name><affiliation wicri:level="1"><mods:affiliation>Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurology, Antwerp University Hospital, Antwerp</wicri:regionArea></affiliation></author><author><name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng- King" last="Tan">Eng- King Tan</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Singapore General Hospital, National Neuroscience Institute, Singapore</mods:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</wicri:regionArea></affiliation></author><author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe</wicri:regionArea></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea></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="1"><mods:affiliation>Department of Neurology, Mayo Clinic Jacksonville, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic Jacksonville</wicri:regionArea></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"><mods:affiliation>Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurology, Antwerp University Hospital, Antwerp</wicri:regionArea></affiliation></author><author><name sortKey="Wirdefeldt, Karin" sort="Wirdefeldt, Karin" uniqKey="Wirdefeldt K" first="Karin" last="Wirdefeldt">Karin Wirdefeldt</name><affiliation><mods:affiliation>Epidemiology and Biostatistics and Department of Clinical Neuroscience, Karolinska Institutet</mods:affiliation><wicri:noCountry code="subField">Karolinska Institutet</wicri:noCountry></affiliation></author><author><name sortKey="Wszolek, Zbigniew" sort="Wszolek, Zbigniew" uniqKey="Wszolek Z" first="Zbigniew" last="Wszolek">Zbigniew Wszolek</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mayo Clinic Jacksonville, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic Jacksonville</wicri:regionArea></affiliation></author><author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa, Greece</mods:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa</wicri:regionArea></affiliation></author><author><name sortKey="Yomono, Harumi S" sort="Yomono, Harumi S" uniqKey="Yomono H" first="Harumi S" last="Yomono">Harumi S. Yomono</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, National Hospital Organization Tokyo Hospital, Tokyo, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, National Hospital Organization Tokyo Hospital, Tokyo</wicri:regionArea></affiliation></author><author><name sortKey="Yueh, Kuo Chu" sort="Yueh, Kuo Chu" uniqKey="Yueh K" first="Kuo-Chu" last="Yueh">Kuo-Chu Yueh</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung</wicri:regionArea></affiliation></author><author><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation><mods:affiliation>Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</mods:affiliation><wicri:noCountry code="subField">Tübingen</wicri:noCountry></affiliation></author><author><name sortKey="Maraganore, Demetrius" sort="Maraganore, Demetrius" uniqKey="Maraganore D" first="Demetrius" last="Maraganore">Demetrius Maraganore</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, NorthShore University HealthSystem, Chicago, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, NorthShore University HealthSystem, Chicago</wicri:regionArea></affiliation></author><author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name><affiliation><mods:affiliation>Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</mods:affiliation><wicri:noCountry code="subField">Tübingen</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2012-11">2012-11</date><biblScope unit="volume">49</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="721">721</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">1E80C3110D21541A237742CD339DD00EB1BB056D</idno><idno type="DOI">10.1136/jmedgenet-2012-101155</idno><idno type="href">jmedgenet-49-721.pdf</idno><idno type="ArticleID">jmedgenet-2012-101155</idno><idno type="local">jmedgenet;49/11/721</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive. Methods and results We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any significant increased risk for p.Leu774Met and p.Gly51Ser in our cohort. Conclusions Our study apart from identifying the p.Asp620Asn variant in familial cases also identified it in idiopathic Parkinson disease cases, and thus provides genetic evidence for a role of p.Asp620Asn in Parkinson disease in different populations worldwide.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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