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A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

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A 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 Krüger

Source :

Journal of Medical Genetics [ 0022-2593 ] ; 2012.

RBID : PMC:3488700

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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488700

DOI: 10.1136/jmedgenet-2012-101155
PubMed: 23125461
PubMed Central: 3488700

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Alexis Brice

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<affiliation wicri:level="1"><nlm:aff id="af6">Cnrs, UMR 7225, Paris, France</nlm:aff>
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<affiliation wicri:level="1"><nlm:aff id="af7">AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris, France</nlm:aff>
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Maurizio F. Facheris

<affiliation><nlm:aff id="af17">Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</nlm:aff>
<wicri:noCountry code="subfield">German</wicri:noCountry>
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Gaetan Garraux

<affiliation><nlm:aff id="af19">Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</nlm:aff>
<wicri:noCountry code="subfield">Itlay</wicri:noCountry>
</affiliation>

Georg Auburger

<affiliation><nlm:aff id="af19">Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</nlm:aff>
<wicri:noCountry code="subfield">Itlay</wicri:noCountry>
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Andrew A. Hicks

<affiliation><nlm:aff id="af17">Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</nlm:aff>
<wicri:noCountry code="subfield">German</wicri:noCountry>
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Suzanne Lesage

<affiliation><nlm:aff id="af5">INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtriére Hospital</nlm:aff>
<wicri:noCountry code="subfield">Pitié-Salpêtriére Hospital</wicri:noCountry>
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<affiliation wicri:level="1"><nlm:aff id="af6">Cnrs, UMR 7225, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Cnrs, UMR 7225, Paris</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="af7">AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris</wicri:regionArea>
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Karen E. Morrison

<affiliation><nlm:aff id="af17">Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</nlm:aff>
<wicri:noCountry code="subfield">German</wicri:noCountry>
</affiliation>

<affiliation wicri:level="1"><nlm:aff id="af35">Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham</wicri:regionArea>
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Peter P. Pramstaller

<affiliation><nlm:aff id="af19">Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</nlm:aff>
<wicri:noCountry code="subfield">Itlay</wicri:noCountry>
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Irene Pichler

<affiliation><nlm:aff id="af19">Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</nlm:aff>
<wicri:noCountry code="subfield">Itlay</wicri:noCountry>
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Karin Wirdefeldt

<affiliation><nlm:aff id="af46">Epidemiology and Biostatistics and Department of Clinical Neuroscience, Karolinska Institutet</nlm:aff>
<wicri:noCountry code="subfield">Karolinska Institutet</wicri:noCountry>
</affiliation>

Thomas Gasser

<affiliation><nlm:aff id="af1">Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</nlm:aff>
<wicri:noCountry code="subfield">Tübingen</wicri:noCountry>
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Rejko Krüger

<affiliation><nlm:aff id="af1">Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</nlm:aff>
<wicri:noCountry code="subfield">Tübingen</wicri:noCountry>
</affiliation>

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<wicri:noCountry code="subfield">German</wicri:noCountry>
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<author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Goethe University Frankfurt am Main, Frankfurt</wicri:regionArea>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea>
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<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>
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<wicri:noCountry code="subfield">German</wicri:noCountry>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
</affiliation>
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<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="af23">Department of Neurology, Seoul National University Hospital, Seoul, Korea</nlm:aff>
<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"><nlm:aff id="af24">Department of Neurology, Medical University of Warsaw, Warsaw, Poland</nlm:aff>
<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"><nlm:aff id="af25">Department of Neurology, Jagiellonian University, Krakow, Poland</nlm:aff>
<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><nlm:aff id="af5">INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtriére Hospital</nlm:aff>
<wicri:noCountry code="subfield">Pitié-Salpêtriére Hospital</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af6">Cnrs, UMR 7225, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Cnrs, UMR 7225, Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af7">AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris, France</nlm:aff>
<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"><nlm:aff id="af9">General Hospital of Syros, Syros, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>General Hospital of Syros, Syros</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af26">Department of Neurology, Johannes Gutenberg University, Mainz, Germany</nlm:aff>
<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"><nlm:aff id="af27">Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung, Taiwan</nlm:aff>
<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"><nlm:aff id="af28">The Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute, University College Dublin, Dublin, Ireland</nlm:aff>
<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"><nlm:aff id="af29">Helmholtz Zentrum München, German Research Centre for Environmental Health (Gmbh), Neuherberg, Germany</nlm:aff>
<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"><nlm:aff id="af30">Movement Disorders Centre, and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Canada</nlm:aff>
<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"><nlm:aff id="af18">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</nlm:aff>
<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"><nlm:aff id="af31">Department of Neurology, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan</nlm:aff>
<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"><nlm:aff id="af32">Department of Medicine and Therapeutics, Prince of Wales Hospital,The Chinese University of Hong Kong, Shatin, Hong Kong</nlm:aff>
<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"><nlm:aff id="af33">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>
</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="af34">Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Australia</nlm:aff>
<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><nlm:aff id="af17">Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</nlm:aff>
<wicri:noCountry code="subfield">German</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af35">Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK</nlm:aff>
<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"><nlm:aff id="af36">German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</nlm:aff>
<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"><nlm:aff id="af37">Institute of Human Genetics, Technische Universität München, Munich, Germany</nlm:aff>
<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"><nlm:aff id="af38">Department of Neurology, Medizinische Universität Wien, Vienna, Austria</nlm:aff>
<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"><nlm:aff id="af36">German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</nlm:aff>
<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><nlm:aff id="af19">Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</nlm:aff>
<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><nlm:aff id="af19">Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</nlm:aff>
<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"><nlm:aff id="af26">Department of Neurology, Johannes Gutenberg University, Mainz, Germany</nlm:aff>
<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"><nlm:aff id="af4">Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro, Italy</nlm:aff>
<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"><nlm:aff id="af39">Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Canada</nlm:aff>
<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"><nlm:aff id="af40">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</nlm:aff>
<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"><nlm:aff id="af11">2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af41">Divisions of Basic Neurosciences & Cell Biology, Biomedical Research Foundation of Academy of Athens, Athens, Greece</nlm:aff>
<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"><nlm:aff id="af35">Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK</nlm:aff>
<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"><nlm:aff id="af42">Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</nlm:aff>
<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"><nlm:aff id="af43">University of Queensland Centre for Clinical Research, Herston, Australia</nlm:aff>
<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"><nlm:aff id="af37">Institute of Human Genetics, Technische Universität München, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af39">Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Canada</nlm:aff>
<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"><nlm:aff id="af14">Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af15">Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">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"><nlm:aff id="af44">Department of Neurology, Singapore General Hospital, National Neuroscience Institute, Singapore</nlm:aff>
<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"><nlm:aff id="af42">Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</nlm:aff>
<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"><nlm:aff id="af22">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>
</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"><nlm:aff id="af45">Department of Neurology, Mayo Clinic Jacksonville, USA</nlm:aff>
<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"><nlm:aff id="af14">Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af15">Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">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><nlm:aff id="af46">Epidemiology and Biostatistics and Department of Clinical Neuroscience, Karolinska Institutet</nlm:aff>
<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"><nlm:aff id="af45">Department of Neurology, Mayo Clinic Jacksonville, USA</nlm:aff>
<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"><nlm:aff id="af21">Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa, Greece</nlm:aff>
<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"><nlm:aff id="af47">Department of Neurology, National Hospital Organization Tokyo Hospital, Tokyo, Japan</nlm:aff>
<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"><nlm:aff id="af27">Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung, Taiwan</nlm:aff>
<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><nlm:aff id="af1">Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</nlm:aff>
<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"><nlm:aff id="af48">Department of Neurology, NorthShore University HealthSystem, Chicago, USA</nlm:aff>
<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><nlm:aff id="af1">Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</nlm:aff>
<wicri:noCountry code="subfield">Tübingen</wicri:noCountry>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">23125461</idno>
<idno type="pmc">3488700</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488700</idno>
<idno type="RBID">PMC:3488700</idno>
<idno type="doi">10.1136/jmedgenet-2012-101155</idno>
<date when="2012">2012</date>
<idno type="wicri:Area/Pmc/Corpus">000A21</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000A21</idno>
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<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000A21</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">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><nlm:aff>NONE</nlm:aff>
</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="af2">Stanford Prevention Research Center, Department of Medicine and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA</nlm:aff>
<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"><nlm:aff id="af3">Department of Neurology, St Olavs Hospital and NTNU Trondheim, Trondheim, Norway</nlm:aff>
<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"><nlm:aff id="af4">Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro, Italy</nlm:aff>
<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><nlm:aff id="af5">INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtriére Hospital</nlm:aff>
<wicri:noCountry code="subfield">Pitié-Salpêtriére Hospital</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af6">Cnrs, UMR 7225, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Cnrs, UMR 7225, Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af7">AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris, France</nlm:aff>
<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"><nlm:aff id="af8">Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">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"><nlm:aff id="af9">General Hospital of Syros, Syros, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>General Hospital of Syros, Syros</wicri:regionArea>
</affiliation>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af11">2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens, Greece</nlm:aff>
<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"><nlm:aff id="af12">Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</nlm:aff>
<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"><nlm:aff id="af13">Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium</nlm:aff>
<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"><nlm:aff id="af14">Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af15">Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">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"><nlm:aff id="af16">School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, City Hospital, Birmingham, UK</nlm:aff>
<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><nlm:aff id="af17">Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</nlm:aff>
<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"><nlm:aff id="af18">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</nlm:aff>
<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><nlm:aff id="af19">Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</nlm:aff>
<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"><nlm:aff id="af20">Department of Neurology, Goethe University Frankfurt am Main, Frankfurt, Germany</nlm:aff>
<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><nlm:aff id="af19">Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</nlm:aff>
<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"><nlm:aff id="af18">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</nlm:aff>
<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"><nlm:aff id="af21">Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa, Greece</nlm:aff>
<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><nlm:aff id="af17">Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</nlm:aff>
<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"><nlm:aff id="af22">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>
</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="af23">Department of Neurology, Seoul National University Hospital, Seoul, Korea</nlm:aff>
<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"><nlm:aff id="af24">Department of Neurology, Medical University of Warsaw, Warsaw, Poland</nlm:aff>
<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"><nlm:aff id="af25">Department of Neurology, Jagiellonian University, Krakow, Poland</nlm:aff>
<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><nlm:aff id="af5">INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtriére Hospital</nlm:aff>
<wicri:noCountry code="subfield">Pitié-Salpêtriére Hospital</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af6">Cnrs, UMR 7225, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Cnrs, UMR 7225, Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af7">AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris, France</nlm:aff>
<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"><nlm:aff id="af9">General Hospital of Syros, Syros, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>General Hospital of Syros, Syros</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af26">Department of Neurology, Johannes Gutenberg University, Mainz, Germany</nlm:aff>
<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"><nlm:aff id="af27">Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung, Taiwan</nlm:aff>
<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"><nlm:aff id="af28">The Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute, University College Dublin, Dublin, Ireland</nlm:aff>
<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"><nlm:aff id="af29">Helmholtz Zentrum München, German Research Centre for Environmental Health (Gmbh), Neuherberg, Germany</nlm:aff>
<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"><nlm:aff id="af30">Movement Disorders Centre, and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Canada</nlm:aff>
<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"><nlm:aff id="af18">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</nlm:aff>
<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"><nlm:aff id="af31">Department of Neurology, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan</nlm:aff>
<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"><nlm:aff id="af32">Department of Medicine and Therapeutics, Prince of Wales Hospital,The Chinese University of Hong Kong, Shatin, Hong Kong</nlm:aff>
<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"><nlm:aff id="af33">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>
</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="af34">Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Australia</nlm:aff>
<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><nlm:aff id="af17">Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</nlm:aff>
<wicri:noCountry code="subfield">German</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af35">Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK</nlm:aff>
<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"><nlm:aff id="af36">German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</nlm:aff>
<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"><nlm:aff id="af37">Institute of Human Genetics, Technische Universität München, Munich, Germany</nlm:aff>
<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"><nlm:aff id="af38">Department of Neurology, Medizinische Universität Wien, Vienna, Austria</nlm:aff>
<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"><nlm:aff id="af36">German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</nlm:aff>
<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><nlm:aff id="af19">Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</nlm:aff>
<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><nlm:aff id="af19">Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</nlm:aff>
<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"><nlm:aff id="af26">Department of Neurology, Johannes Gutenberg University, Mainz, Germany</nlm:aff>
<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"><nlm:aff id="af4">Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro, Italy</nlm:aff>
<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"><nlm:aff id="af39">Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Canada</nlm:aff>
<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"><nlm:aff id="af40">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</nlm:aff>
<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"><nlm:aff id="af11">2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af41">Divisions of Basic Neurosciences & Cell Biology, Biomedical Research Foundation of Academy of Athens, Athens, Greece</nlm:aff>
<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"><nlm:aff id="af35">Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK</nlm:aff>
<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"><nlm:aff id="af42">Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</nlm:aff>
<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"><nlm:aff id="af43">University of Queensland Centre for Clinical Research, Herston, Australia</nlm:aff>
<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"><nlm:aff id="af37">Institute of Human Genetics, Technische Universität München, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af39">Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Canada</nlm:aff>
<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"><nlm:aff id="af14">Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af15">Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">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"><nlm:aff id="af44">Department of Neurology, Singapore General Hospital, National Neuroscience Institute, Singapore</nlm:aff>
<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"><nlm:aff id="af42">Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</nlm:aff>
<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"><nlm:aff id="af22">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>
</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"><nlm:aff id="af45">Department of Neurology, Mayo Clinic Jacksonville, USA</nlm:aff>
<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"><nlm:aff id="af14">Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af15">Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">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><nlm:aff id="af46">Epidemiology and Biostatistics and Department of Clinical Neuroscience, Karolinska Institutet</nlm:aff>
<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"><nlm:aff id="af45">Department of Neurology, Mayo Clinic Jacksonville, USA</nlm:aff>
<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"><nlm:aff id="af21">Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa, Greece</nlm:aff>
<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"><nlm:aff id="af47">Department of Neurology, National Hospital Organization Tokyo Hospital, Tokyo, Japan</nlm:aff>
<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"><nlm:aff id="af27">Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung, Taiwan</nlm:aff>
<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><nlm:aff id="af1">Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</nlm:aff>
<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"><nlm:aff id="af48">Department of Neurology, NorthShore University HealthSystem, Chicago, USA</nlm:aff>
<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><nlm:aff id="af1">Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</nlm:aff>
<wicri:noCountry code="subfield">Tübingen</wicri:noCountry>
</affiliation>
</author>
</analytic>
<series><title level="j">Journal of Medical Genetics</title>
<idno type="ISSN">0022-2593</idno>
<idno type="eISSN">1468-6244</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>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.</p>
</sec>
<sec><title>Methods and results</title>
<p>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.</p>
</sec>
<sec><title>Conclusions</title>
<p>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.</p>
</sec>
</div>
</front>
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<article-id pub-id-type="pmc">3488700</article-id>
<article-id pub-id-type="publisher-id">jmedgenet-2012-101155</article-id>
<article-id pub-id-type="doi">10.1136/jmedgenet-2012-101155</article-id>
<article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>1506</subject>
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<subj-group subj-group-type="heading"><subject>Genotype-Phenotype Correlations</subject>
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<contrib contrib-type="author"><name><surname>Lang</surname>
<given-names>Anthony E</given-names>
</name>
<xref ref-type="aff" rid="af30">30</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Libioulle</surname>
<given-names>Cecile</given-names>
</name>
<xref ref-type="aff" rid="af18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Murata</surname>
<given-names>Miho</given-names>
</name>
<xref ref-type="aff" rid="af31">31</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mok</surname>
<given-names>Vincent</given-names>
</name>
<xref ref-type="aff" rid="af32">32</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jasinska-Myga</surname>
<given-names>Barbara</given-names>
</name>
<xref ref-type="aff" rid="af33">33</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mellick</surname>
<given-names>George D</given-names>
</name>
<xref ref-type="aff" rid="af34">34</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Morrison</surname>
<given-names>Karen E</given-names>
</name>
<xref ref-type="aff" rid="af17">17</xref>
<xref ref-type="aff" rid="af35">35</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Meitnger</surname>
<given-names>Thomas</given-names>
</name>
<xref ref-type="aff" rid="af36">36</xref>
<xref ref-type="aff" rid="af37">37</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zimprich</surname>
<given-names>Alexander</given-names>
</name>
<xref ref-type="aff" rid="af38">38</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Opala</surname>
<given-names>Grzegorz</given-names>
</name>
<xref ref-type="aff" rid="af36">36</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pramstaller</surname>
<given-names>Peter P</given-names>
</name>
<xref ref-type="aff" rid="af19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pichler</surname>
<given-names>Irene</given-names>
</name>
<xref ref-type="aff" rid="af19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Park</surname>
<given-names>Sung Sup</given-names>
</name>
<xref ref-type="aff" rid="af26">26</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Quattrone</surname>
<given-names>Aldo</given-names>
</name>
<xref ref-type="aff" rid="af4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rogaeva</surname>
<given-names>Ekaterina</given-names>
</name>
<xref ref-type="aff" rid="af39">39</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ross</surname>
<given-names>Owen A.</given-names>
</name>
<xref ref-type="aff" rid="af40">40</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stefanis</surname>
<given-names>Leonidas</given-names>
</name>
<xref ref-type="aff" rid="af11">11</xref>
<xref ref-type="aff" rid="af41">41</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stockton</surname>
<given-names>Joanne D</given-names>
</name>
<xref ref-type="aff" rid="af35">35</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Satake</surname>
<given-names>Wataru</given-names>
</name>
<xref ref-type="aff" rid="af42">42</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Silburn</surname>
<given-names>Peter A</given-names>
</name>
<xref ref-type="aff" rid="af43">43</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Strom</surname>
<given-names>Tim M</given-names>
</name>
<xref ref-type="aff" rid="af37">37</xref>
<xref ref-type="aff" rid="af39">39</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Theuns</surname>
<given-names>Jessie</given-names>
</name>
<xref ref-type="aff" rid="af14">14</xref>
<xref ref-type="aff" rid="af15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tan</surname>
<given-names>Eng- King</given-names>
</name>
<xref ref-type="aff" rid="af44">44</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Toda</surname>
<given-names>Tatsushi</given-names>
</name>
<xref ref-type="aff" rid="af42">42</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tomiyama</surname>
<given-names>Hiroyuki</given-names>
</name>
<xref ref-type="aff" rid="af22">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Uitti</surname>
<given-names>Ryan J</given-names>
</name>
<xref ref-type="aff" rid="af45">45</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Van Broeckhoven</surname>
<given-names>Christine</given-names>
</name>
<xref ref-type="aff" rid="af14">14</xref>
<xref ref-type="aff" rid="af15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wirdefeldt</surname>
<given-names>Karin</given-names>
</name>
<xref ref-type="aff" rid="af46">46</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wszolek</surname>
<given-names>Zbigniew</given-names>
</name>
<xref ref-type="aff" rid="af45">45</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Xiromerisiou</surname>
<given-names>Georgia</given-names>
</name>
<xref ref-type="aff" rid="af21">21</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Yomono</surname>
<given-names>Harumi S</given-names>
</name>
<xref ref-type="aff" rid="af47">47</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Yueh</surname>
<given-names>Kuo-Chu</given-names>
</name>
<xref ref-type="aff" rid="af27">27</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zhao</surname>
<given-names>Yi</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Gasser</surname>
<given-names>Thomas</given-names>
</name>
<xref ref-type="aff" rid="af1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Maraganore</surname>
<given-names>Demetrius</given-names>
</name>
<xref ref-type="aff" rid="af48">48</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Krüger</surname>
<given-names>Rejko</given-names>
</name>
<xref ref-type="aff" rid="af1">1</xref>
</contrib>
<contrib contrib-type="author"><collab>on behalf of GEOPD consortium</collab>
</contrib>
</contrib-group>
<aff id="af1"><label>1</label>
Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen</aff>
<aff id="af2"><label>2</label>
Stanford Prevention Research Center, Department of Medicine and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA</aff>
<aff id="af3"><label>3</label>
Department of Neurology, St Olavs Hospital and NTNU Trondheim, Trondheim, Norway</aff>
<aff id="af4"><label>4</label>
Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro, Italy</aff>
<aff id="af5"><label>5</label>
INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtriére Hospital</aff>
<aff id="af6"><label>6</label>
Cnrs, UMR 7225, Paris, France</aff>
<aff id="af7"><label>7</label>
AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris, France</aff>
<aff id="af8"><label>8</label>
Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</aff>
<aff id="af9"><label>9</label>
General Hospital of Syros, Syros, Greece</aff>
<aff id="af10"><label>10</label>
‘Hygeia’ Hospital, Clinic of Neurodegenerative Disorders, Athens, Greece</aff>
<aff id="af11"><label>11</label>
2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens, Greece</aff>
<aff id="af12"><label>12</label>
Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</aff>
<aff id="af13"><label>13</label>
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium</aff>
<aff id="af14"><label>14</label>
Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</aff>
<aff id="af15"><label>15</label>
Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.</aff>
<aff id="af16"><label>16</label>
School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, City Hospital, Birmingham, UK</aff>
<aff id="af17"><label>17</label>
Centre for Biomedicine, European Academy Bozen/Bolzano, Itlay, Affiliated institute of the University of Lübeck, Lübeck, German</aff>
<aff id="af18"><label>18</label>
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</aff>
<aff id="af19"><label>19</label>
Human Genetic Centre, University Hospital of Liége, Liége, Belgium and Department of Neurology, General Central Hospital, Bolzano, Itlay</aff>
<aff id="af20"><label>20</label>
Department of Neurology, Goethe University Frankfurt am Main, Frankfurt, Germany</aff>
<aff id="af21"><label>21</label>
Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa, Greece</aff>
<aff id="af22"><label>22</label>
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</aff>
<aff id="af23"><label>23</label>
Department of Neurology, Seoul National University Hospital, Seoul, Korea</aff>
<aff id="af24"><label>24</label>
Department of Neurology, Medical University of Warsaw, Warsaw, Poland</aff>
<aff id="af25"><label>25</label>
Department of Neurology, Jagiellonian University, Krakow, Poland</aff>
<aff id="af26"><label>26</label>
Department of Neurology, Johannes Gutenberg University, Mainz, Germany</aff>
<aff id="af27"><label>27</label>
Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung, Taiwan</aff>
<aff id="af28"><label>28</label>
The Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute, University College Dublin, Dublin, Ireland</aff>
<aff id="af29"><label>29</label>
Helmholtz Zentrum München, German Research Centre for Environmental Health (Gmbh), Neuherberg, Germany</aff>
<aff id="af30"><label>30</label>
Movement Disorders Centre, and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Canada</aff>
<aff id="af31"><label>31</label>
Department of Neurology, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan</aff>
<aff id="af32"><label>32</label>
Department of Medicine and Therapeutics, Prince of Wales Hospital,The Chinese University of Hong Kong, Shatin, Hong Kong</aff>
<aff id="af33"><label>33</label>
Department of Neurology, Medical University of Silesia, Katowice, Poland</aff>
<aff id="af34"><label>34</label>
Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Australia</aff>
<aff id="af35"><label>35</label>
Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK</aff>
<aff id="af36"><label>36</label>
German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</aff>
<aff id="af37"><label>37</label>
Institute of Human Genetics, Technische Universität München, Munich, Germany</aff>
<aff id="af38"><label>38</label>
Department of Neurology, Medizinische Universität Wien, Vienna, Austria</aff>
<aff id="af39"><label>39</label>
Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Canada</aff>
<aff id="af40"><label>40</label>
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</aff>
<aff id="af41"><label>41</label>
Divisions of Basic Neurosciences & Cell Biology, Biomedical Research Foundation of Academy of Athens, Athens, Greece</aff>
<aff id="af42"><label>42</label>
Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</aff>
<aff id="af43"><label>43</label>
University of Queensland Centre for Clinical Research, Herston, Australia</aff>
<aff id="af44"><label>44</label>
Department of Neurology, Singapore General Hospital, National Neuroscience Institute, Singapore</aff>
<aff id="af45"><label>45</label>
Department of Neurology, Mayo Clinic Jacksonville, USA</aff>
<aff id="af46"><label>46</label>
Epidemiology and Biostatistics and Department of Clinical Neuroscience, Karolinska Institutet</aff>
<aff id="af47"><label>47</label>
Department of Neurology, National Hospital Organization Tokyo Hospital, Tokyo, Japan</aff>
<aff id="af48"><label>48</label>
Department of Neurology, NorthShore University HealthSystem, Chicago, USA</aff>
<author-notes><corresp><label>Correspondence to</label>
 Dr Manu Sharma, Department. of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen, Hoppe-Seyler-Str. 3, Tübingen 72076, Germany; <email>manu.sharma@uni-tuebingen.de</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>11</month>
<year>2012</year>
</pub-date>
<volume>49</volume>
<issue>11</issue>
<fpage>721</fpage>
<lpage>726</lpage>
<history><date date-type="received"><day>6</day>
<month>7</month>
<year>2012</year>
</date>
<date date-type="rev-recd"><day>5</day>
<month>9</month>
<year>2012</year>
</date>
<date date-type="accepted"><day>7</day>
<month>9</month>
<year>2012</year>
</date>
</history>
<permissions><copyright-statement>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</copyright-statement>
<copyright-year>2012</copyright-year>
<license license-type="open-access"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/">http://creativecommons.org/licenses/by-nc/3.0/</ext-link>
 and <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/legalcode">http://creativecommons.org/licenses/by-nc/3.0/legalcode</ext-link>
</license-p>
</license>
</permissions>
<self-uri xlink:title="pdf" xlink:type="simple" xlink:href="jmedgenet-2012-101155.pdf"></self-uri>
<abstract><sec><title>Background</title>
<p>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.</p>
</sec>
<sec><title>Methods and results</title>
<p>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.</p>
</sec>
<sec><title>Conclusions</title>
<p>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.</p>
</sec>
</abstract>
<kwd-group><kwd>Parkinson-s disease</kwd>
<kwd>Genome-wide</kwd>
<kwd>Genetics</kwd>
<kwd>Genetic epidemiology</kwd>
<kwd>Complex traits</kwd>
</kwd-group>
<custom-meta-group><custom-meta><meta-name>special-feature</meta-name>
<meta-value>unlocked</meta-value>
</custom-meta>
</custom-meta-group>
</article-meta>
</front>
</pmc>
</record>

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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

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