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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Multi-center analysis of glucocerebrosidase mutations in Parkinson disease</title><author><name sortKey="Sidransky, Ellen" sort="Sidransky, Ellen" uniqKey="Sidransky E" first="Ellen" last="Sidransky">Ellen Sidransky</name><affiliation><nlm:aff id="A1">Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A." last="Nalls">Michael A. Nalls</name><affiliation><nlm:aff id="A8">Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></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><nlm:aff id="A2">Department of Neurology, St. Olav’s Hospital and Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</nlm:aff></affiliation></author><author><name sortKey="Aharon Peretz, Judith" sort="Aharon Peretz, Judith" uniqKey="Aharon Peretz J" first="Judith" last="Aharon-Peretz">Judith Aharon-Peretz</name><affiliation><nlm:aff id="A3">Cognitive Neurology and Movement Disorder Unit, Technion, Israel Institute of Technology, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><affiliation><nlm:aff id="A4">Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation></author><author><name sortKey="Barbosa, Egberto Reis" sort="Barbosa, Egberto Reis" uniqKey="Barbosa E" first="Egberto Reis" last="Barbosa">Egberto Reis Barbosa</name><affiliation><nlm:aff id="A5">Movement Disorders Unit, Neurology Department, University of São Paulo Medical School, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Bar Shira, Anat" sort="Bar Shira, Anat" uniqKey="Bar Shira A" first="Anat" last="Bar-Shira">Anat Bar-Shira</name><affiliation><nlm:aff id="A6">The Genetic Institute, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name><affiliation><nlm:aff id="A7">Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name><affiliation><nlm:aff id="A8">Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal</nlm:aff></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><nlm:aff id="A10">INSERM, CRicm UMR_S975 (Formerly UMR_S679), Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Pierre et Marie Curie6 University, CRicmUMR_S975 CRicm, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">AP-HP, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Chen, Chiung Mei" sort="Chen, Chiung Mei" uniqKey="Chen C" first="Chiung-Mei" last="Chen">Chiung-Mei Chen</name><affiliation><nlm:aff id="A13">Department of Neurology, Chang Gung Memorial Hospital, Chang-Gung University College of Medicine, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><affiliation><nlm:aff id="A14">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Center for Human Genetics, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Department of Pathology, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Condroyer, Christel" sort="Condroyer, Christel" uniqKey="Condroyer C" first="Christel" last="Condroyer">Christel Condroyer</name><affiliation><nlm:aff id="A10">INSERM, CRicm UMR_S975 (Formerly UMR_S679), Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Pierre et Marie Curie6 University, CRicmUMR_S975 CRicm, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation></author><author><name sortKey="De Marco, Elvira Valeria" sort="De Marco, Elvira Valeria" uniqKey="De Marco E" first="Elvira Valeria" last="De Marco">Elvira Valeria De Marco</name><affiliation><nlm:aff id="A4">Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><nlm:aff id="A10">INSERM, CRicm UMR_S975 (Formerly UMR_S679), Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Pierre et Marie Curie6 University, CRicmUMR_S975 CRicm, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">AP-HP, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Eblan, Michael J" sort="Eblan, Michael J" uniqKey="Eblan M" first="Michael J." last="Eblan">Michael J. Eblan</name><affiliation><nlm:aff id="A1">Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation><nlm:aff id="A17">Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><affiliation><nlm:aff id="A18">Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Fung, Hon Chung" sort="Fung, Hon Chung" uniqKey="Fung H" first="Hon-Chung" last="Fung">Hon-Chung Fung</name><affiliation><nlm:aff id="A13">Department of Neurology, Chang Gung Memorial Hospital, Chang-Gung University College of Medicine, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><affiliation><nlm:aff id="A6">The Genetic Institute, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A19">The Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation><nlm:aff id="A7">Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Gershoni Baruch, Ruth" sort="Gershoni Baruch, Ruth" uniqKey="Gershoni Baruch R" first="Ruth" last="Gershoni-Baruch">Ruth Gershoni-Baruch</name><affiliation><nlm:aff id="A20">Baruch Human Genetics Rambam Medical Center, Technion, Israel Institute of Technology, Haifa, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Giladi, Nir" sort="Giladi, Nir" uniqKey="Giladi N" first="Nir" last="Giladi">Nir Giladi</name><affiliation><nlm:aff id="A19">The Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Movement Disorders Unit, Parkinson Center, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Griffith, Alida" sort="Griffith, Alida" uniqKey="Griffith A" first="Alida" last="Griffith">Alida Griffith</name><affiliation><nlm:aff id="A23">Booth Gardner Parkinson’s Care Center, Evergreen Hospital Medical Center, Kirkland, WA</nlm:aff></affiliation></author><author><name sortKey="Gurevich, Tanya" sort="Gurevich, Tanya" uniqKey="Gurevich T" first="Tanya" last="Gurevich">Tanya Gurevich</name><affiliation><nlm:aff id="A19">The Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Movement Disorders Unit, Parkinson Center, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Januario, Cristina" sort="Januario, Cristina" uniqKey="Januario C" first="Cristina" last="Januario">Cristina Januario</name><affiliation><nlm:aff id="A24">Neurology Service, University of Coimbra Hospital, Coimbra, Portugal</nlm:aff></affiliation></author><author><name sortKey="Kropp, Peter" sort="Kropp, Peter" uniqKey="Kropp P" first="Peter" last="Kropp">Peter Kropp</name><affiliation><nlm:aff id="A25">Institute for Medical Psychology, University of Rostock, Rostock, Germany</nlm:aff></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><nlm:aff id="A26">Movement Disorders Centre, Toronto Western Hospital, Department of Medicine, Division of Neurology, University of Toronto, Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Lee Chen, Guey Jen" sort="Lee Chen, Guey Jen" uniqKey="Lee Chen G" first="Guey-Jen" last="Lee-Chen">Guey-Jen Lee-Chen</name><affiliation><nlm:aff id="A27">Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><nlm:aff id="A10">INSERM, CRicm UMR_S975 (Formerly UMR_S679), Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Pierre et Marie Curie6 University, CRicmUMR_S975 CRicm, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation><nlm:aff id="A14">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A28">Gertrude H. Sergievsky Center, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A29">Department of Psychiatry, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name><affiliation><nlm:aff id="A30">Parkinson's Disease and Geriatric Research Education and Clinical Centers, VA Puget Sound Health Care System, and Department of Neurology, University of Washington, Seattle, WA</nlm:aff></affiliation></author><author><name sortKey="Mirelman, Anat" sort="Mirelman, Anat" uniqKey="Mirelman A" first="Anat" last="Mirelman">Anat Mirelman</name><affiliation><nlm:aff id="A22">Movement Disorders Unit, Parkinson Center, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Mitsui, Jun" sort="Mitsui, Jun" uniqKey="Mitsui J" first="Jun" last="Mitsui">Jun Mitsui</name><affiliation><nlm:aff id="A31">Department of Neurology, University of Tokyo Graduate School of Medicine, Tokyo, Japan</nlm:aff></affiliation></author><author><name sortKey="Mizuta, Ikuko" sort="Mizuta, Ikuko" uniqKey="Mizuta I" first="Ikuko" last="Mizuta">Ikuko Mizuta</name><affiliation><nlm:aff id="A32">Division of Neurology and Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</nlm:aff></affiliation></author><author><name sortKey="Nicoletti, Giuseppe" sort="Nicoletti, Giuseppe" uniqKey="Nicoletti G" first="Giuseppe" last="Nicoletti">Giuseppe Nicoletti</name><affiliation><nlm:aff id="A4">Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Institute of Neurology, Department of Medical Sciences, University Magna Graecia, Catanzaro, Italy</nlm:aff></affiliation></author><author><name sortKey="Oliveira, Catarina" sort="Oliveira, Catarina" uniqKey="Oliveira C" first="Catarina" last="Oliveira">Catarina Oliveira</name><affiliation><nlm:aff id="A9">Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Neurology Service, University of Coimbra Hospital, Coimbra, Portugal</nlm:aff></affiliation></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name><affiliation><nlm:aff id="A28">Gertrude H. Sergievsky Center, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A34">Department of Epidemiology, Mailman School of Public Health, Columbia University and New York State Psychiatric Institute, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Orr Urtreger, Avi" sort="Orr Urtreger, Avi" uniqKey="Orr Urtreger A" first="Avi" last="Orr-Urtreger">Avi Orr-Urtreger</name><affiliation><nlm:aff id="A6">The Genetic Institute, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A19">The Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Pereira, Lygia V" sort="Pereira, Lygia V" uniqKey="Pereira L" first="Lygia V." last="Pereira">Lygia V. Pereira</name><affiliation><nlm:aff id="A35">Molecular Genetics Lab, Department of Genetics and Evolutionary Biology, Bioscences Institute, University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation><nlm:aff id="A4">Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Institute of Neurology, Department of Medical Sciences, University Magna Graecia, Catanzaro, Italy</nlm:aff></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation><nlm:aff id="A36">Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Rolfs, Arndt" sort="Rolfs, Arndt" uniqKey="Rolfs A" first="Arndt" last="Rolfs">Arndt Rolfs</name><affiliation><nlm:aff id="A37">Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany</nlm:aff></affiliation></author><author><name sortKey="Rosenbaum, Hanna" sort="Rosenbaum, Hanna" uniqKey="Rosenbaum H" first="Hanna" last="Rosenbaum">Hanna Rosenbaum</name><affiliation><nlm:aff id="A38">Hematology and Bone Marrow Transplantation Departments, Technion, Israel Institute of Technology, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Rozenberg, Roberto" sort="Rozenberg, Roberto" uniqKey="Rozenberg R" first="Roberto" last="Rozenberg">Roberto Rozenberg</name><affiliation><nlm:aff id="A35">Molecular Genetics Lab, Department of Genetics and Evolutionary Biology, Bioscences Institute, University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><affiliation><nlm:aff id="A30">Parkinson's Disease and Geriatric Research Education and Clinical Centers, VA Puget Sound Health Care System, and Department of Neurology, University of Washington, Seattle, WA</nlm:aff></affiliation></author><author><name sortKey="Samaddar, Ted" sort="Samaddar, Ted" uniqKey="Samaddar T" first="Ted" last="Samaddar">Ted Samaddar</name><affiliation><nlm:aff id="A1">Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Schulte, Claudia" sort="Schulte, Claudia" uniqKey="Schulte C" first="Claudia" last="Schulte">Claudia Schulte</name><affiliation><nlm:aff id="A7">Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><affiliation><nlm:aff id="A7">Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation><nlm:aff id="A8">Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Spitz, Mariana" sort="Spitz, Mariana" uniqKey="Spitz M" first="Mariana" last="Spitz">Mariana Spitz</name><affiliation><nlm:aff id="A5">Movement Disorders Unit, Neurology Department, University of São Paulo Medical School, São Paulo, Brazil</nlm:aff></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><nlm:aff id="A39">Singapore General Hospital, National Neuroscience Institute, Singapore</nlm:aff></affiliation><affiliation><nlm:aff id="A40">Duke-NUS Graduate Medical School, Singapore</nlm:aff></affiliation></author><author><name sortKey="Tayebi, Nahid" sort="Tayebi, Nahid" uniqKey="Tayebi N" first="Nahid" last="Tayebi">Nahid Tayebi</name><affiliation><nlm:aff id="A1">Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><affiliation><nlm:aff id="A32">Division of Neurology and Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</nlm:aff></affiliation></author><author><name sortKey="Troiano, Andre" sort="Troiano, Andre" uniqKey="Troiano A" first="André" last="Troiano">André Troiano</name><affiliation><nlm:aff id="A10">INSERM, CRicm UMR_S975 (Formerly UMR_S679), Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Pierre et Marie Curie6 University, CRicmUMR_S975 CRicm, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name><affiliation><nlm:aff id="A31">Department of Neurology, University of Tokyo Graduate School of Medicine, Tokyo, Japan</nlm:aff></affiliation></author><author><name sortKey="Wittstock, Matthias" sort="Wittstock, Matthias" uniqKey="Wittstock M" first="Matthias" last="Wittstock">Matthias Wittstock</name><affiliation><nlm:aff id="A41">Department of Neurology, University of Rostock, Rostock, Germany</nlm:aff></affiliation></author><author><name sortKey="Wolfsberg, Tyra G" sort="Wolfsberg, Tyra G" uniqKey="Wolfsberg T" first="Tyra G." last="Wolfsberg">Tyra G. Wolfsberg</name><affiliation><nlm:aff id="A42">Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Wu, Yih Ru" sort="Wu, Yih Ru" uniqKey="Wu Y" first="Yih-Ru" last="Wu">Yih-Ru Wu</name><affiliation><nlm:aff id="A13">Department of Neurology, Chang Gung Memorial Hospital, Chang-Gung University College of Medicine, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name><affiliation><nlm:aff id="A30">Parkinson's Disease and Geriatric Research Education and Clinical Centers, VA Puget Sound Health Care System, and Department of Neurology, University of Washington, Seattle, WA</nlm:aff></affiliation></author><author><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name><affiliation><nlm:aff id="A39">Singapore General Hospital, National Neuroscience Institute, Singapore</nlm:aff></affiliation></author><author><name sortKey="Ziegler, Shira G" sort="Ziegler, Shira G" uniqKey="Ziegler S" first="Shira G." last="Ziegler">Shira G. Ziegler</name><affiliation><nlm:aff id="A1">Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">19846850</idno><idno type="pmc">2856322</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2856322</idno><idno type="RBID">PMC:2856322</idno><idno type="doi">10.1056/NEJMoa0901281</idno><date when="2009">2009</date><idno type="wicri:Area/Pmc/Corpus">000360</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000360</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Multi-center analysis of glucocerebrosidase mutations in Parkinson disease</title><author><name sortKey="Sidransky, Ellen" sort="Sidransky, Ellen" uniqKey="Sidransky E" first="Ellen" last="Sidransky">Ellen Sidransky</name><affiliation><nlm:aff id="A1">Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A." last="Nalls">Michael A. Nalls</name><affiliation><nlm:aff id="A8">Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></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><nlm:aff id="A2">Department of Neurology, St. Olav’s Hospital and Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</nlm:aff></affiliation></author><author><name sortKey="Aharon Peretz, Judith" sort="Aharon Peretz, Judith" uniqKey="Aharon Peretz J" first="Judith" last="Aharon-Peretz">Judith Aharon-Peretz</name><affiliation><nlm:aff id="A3">Cognitive Neurology and Movement Disorder Unit, Technion, Israel Institute of Technology, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><affiliation><nlm:aff id="A4">Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation></author><author><name sortKey="Barbosa, Egberto Reis" sort="Barbosa, Egberto Reis" uniqKey="Barbosa E" first="Egberto Reis" last="Barbosa">Egberto Reis Barbosa</name><affiliation><nlm:aff id="A5">Movement Disorders Unit, Neurology Department, University of São Paulo Medical School, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Bar Shira, Anat" sort="Bar Shira, Anat" uniqKey="Bar Shira A" first="Anat" last="Bar-Shira">Anat Bar-Shira</name><affiliation><nlm:aff id="A6">The Genetic Institute, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name><affiliation><nlm:aff id="A7">Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name><affiliation><nlm:aff id="A8">Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal</nlm:aff></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><nlm:aff id="A10">INSERM, CRicm UMR_S975 (Formerly UMR_S679), Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Pierre et Marie Curie6 University, CRicmUMR_S975 CRicm, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">AP-HP, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Chen, Chiung Mei" sort="Chen, Chiung Mei" uniqKey="Chen C" first="Chiung-Mei" last="Chen">Chiung-Mei Chen</name><affiliation><nlm:aff id="A13">Department of Neurology, Chang Gung Memorial Hospital, Chang-Gung University College of Medicine, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><affiliation><nlm:aff id="A14">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Center for Human Genetics, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Department of Pathology, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Condroyer, Christel" sort="Condroyer, Christel" uniqKey="Condroyer C" first="Christel" last="Condroyer">Christel Condroyer</name><affiliation><nlm:aff id="A10">INSERM, CRicm UMR_S975 (Formerly UMR_S679), Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Pierre et Marie Curie6 University, CRicmUMR_S975 CRicm, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation></author><author><name sortKey="De Marco, Elvira Valeria" sort="De Marco, Elvira Valeria" uniqKey="De Marco E" first="Elvira Valeria" last="De Marco">Elvira Valeria De Marco</name><affiliation><nlm:aff id="A4">Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><nlm:aff id="A10">INSERM, CRicm UMR_S975 (Formerly UMR_S679), Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Pierre et Marie Curie6 University, CRicmUMR_S975 CRicm, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">AP-HP, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Eblan, Michael J" sort="Eblan, Michael J" uniqKey="Eblan M" first="Michael J." last="Eblan">Michael J. Eblan</name><affiliation><nlm:aff id="A1">Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation><nlm:aff id="A17">Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><affiliation><nlm:aff id="A18">Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</nlm:aff></affiliation></author><author><name sortKey="Fung, Hon Chung" sort="Fung, Hon Chung" uniqKey="Fung H" first="Hon-Chung" last="Fung">Hon-Chung Fung</name><affiliation><nlm:aff id="A13">Department of Neurology, Chang Gung Memorial Hospital, Chang-Gung University College of Medicine, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><affiliation><nlm:aff id="A6">The Genetic Institute, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A19">The Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation><nlm:aff id="A7">Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Gershoni Baruch, Ruth" sort="Gershoni Baruch, Ruth" uniqKey="Gershoni Baruch R" first="Ruth" last="Gershoni-Baruch">Ruth Gershoni-Baruch</name><affiliation><nlm:aff id="A20">Baruch Human Genetics Rambam Medical Center, Technion, Israel Institute of Technology, Haifa, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Giladi, Nir" sort="Giladi, Nir" uniqKey="Giladi N" first="Nir" last="Giladi">Nir Giladi</name><affiliation><nlm:aff id="A19">The Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Movement Disorders Unit, Parkinson Center, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Griffith, Alida" sort="Griffith, Alida" uniqKey="Griffith A" first="Alida" last="Griffith">Alida Griffith</name><affiliation><nlm:aff id="A23">Booth Gardner Parkinson’s Care Center, Evergreen Hospital Medical Center, Kirkland, WA</nlm:aff></affiliation></author><author><name sortKey="Gurevich, Tanya" sort="Gurevich, Tanya" uniqKey="Gurevich T" first="Tanya" last="Gurevich">Tanya Gurevich</name><affiliation><nlm:aff id="A19">The Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Movement Disorders Unit, Parkinson Center, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Januario, Cristina" sort="Januario, Cristina" uniqKey="Januario C" first="Cristina" last="Januario">Cristina Januario</name><affiliation><nlm:aff id="A24">Neurology Service, University of Coimbra Hospital, Coimbra, Portugal</nlm:aff></affiliation></author><author><name sortKey="Kropp, Peter" sort="Kropp, Peter" uniqKey="Kropp P" first="Peter" last="Kropp">Peter Kropp</name><affiliation><nlm:aff id="A25">Institute for Medical Psychology, University of Rostock, Rostock, Germany</nlm:aff></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><nlm:aff id="A26">Movement Disorders Centre, Toronto Western Hospital, Department of Medicine, Division of Neurology, University of Toronto, Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Lee Chen, Guey Jen" sort="Lee Chen, Guey Jen" uniqKey="Lee Chen G" first="Guey-Jen" last="Lee-Chen">Guey-Jen Lee-Chen</name><affiliation><nlm:aff id="A27">Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><nlm:aff id="A10">INSERM, CRicm UMR_S975 (Formerly UMR_S679), Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Pierre et Marie Curie6 University, CRicmUMR_S975 CRicm, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation><nlm:aff id="A14">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A28">Gertrude H. Sergievsky Center, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A29">Department of Psychiatry, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name><affiliation><nlm:aff id="A30">Parkinson's Disease and Geriatric Research Education and Clinical Centers, VA Puget Sound Health Care System, and Department of Neurology, University of Washington, Seattle, WA</nlm:aff></affiliation></author><author><name sortKey="Mirelman, Anat" sort="Mirelman, Anat" uniqKey="Mirelman A" first="Anat" last="Mirelman">Anat Mirelman</name><affiliation><nlm:aff id="A22">Movement Disorders Unit, Parkinson Center, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Mitsui, Jun" sort="Mitsui, Jun" uniqKey="Mitsui J" first="Jun" last="Mitsui">Jun Mitsui</name><affiliation><nlm:aff id="A31">Department of Neurology, University of Tokyo Graduate School of Medicine, Tokyo, Japan</nlm:aff></affiliation></author><author><name sortKey="Mizuta, Ikuko" sort="Mizuta, Ikuko" uniqKey="Mizuta I" first="Ikuko" last="Mizuta">Ikuko Mizuta</name><affiliation><nlm:aff id="A32">Division of Neurology and Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</nlm:aff></affiliation></author><author><name sortKey="Nicoletti, Giuseppe" sort="Nicoletti, Giuseppe" uniqKey="Nicoletti G" first="Giuseppe" last="Nicoletti">Giuseppe Nicoletti</name><affiliation><nlm:aff id="A4">Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Institute of Neurology, Department of Medical Sciences, University Magna Graecia, Catanzaro, Italy</nlm:aff></affiliation></author><author><name sortKey="Oliveira, Catarina" sort="Oliveira, Catarina" uniqKey="Oliveira C" first="Catarina" last="Oliveira">Catarina Oliveira</name><affiliation><nlm:aff id="A9">Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Neurology Service, University of Coimbra Hospital, Coimbra, Portugal</nlm:aff></affiliation></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name><affiliation><nlm:aff id="A28">Gertrude H. Sergievsky Center, Columbia University College of Physicians and Surgeons, New York, NY</nlm:aff></affiliation><affiliation><nlm:aff id="A34">Department of Epidemiology, Mailman School of Public Health, Columbia University and New York State Psychiatric Institute, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Orr Urtreger, Avi" sort="Orr Urtreger, Avi" uniqKey="Orr Urtreger A" first="Avi" last="Orr-Urtreger">Avi Orr-Urtreger</name><affiliation><nlm:aff id="A6">The Genetic Institute, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A19">The Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Pereira, Lygia V" sort="Pereira, Lygia V" uniqKey="Pereira L" first="Lygia V." last="Pereira">Lygia V. Pereira</name><affiliation><nlm:aff id="A35">Molecular Genetics Lab, Department of Genetics and Evolutionary Biology, Bioscences Institute, University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation><nlm:aff id="A4">Institute of Neurological Sciences, National Research Council, Cosenza, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Institute of Neurology, Department of Medical Sciences, University Magna Graecia, Catanzaro, Italy</nlm:aff></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation><nlm:aff id="A36">Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Rolfs, Arndt" sort="Rolfs, Arndt" uniqKey="Rolfs A" first="Arndt" last="Rolfs">Arndt Rolfs</name><affiliation><nlm:aff id="A37">Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany</nlm:aff></affiliation></author><author><name sortKey="Rosenbaum, Hanna" sort="Rosenbaum, Hanna" uniqKey="Rosenbaum H" first="Hanna" last="Rosenbaum">Hanna Rosenbaum</name><affiliation><nlm:aff id="A38">Hematology and Bone Marrow Transplantation Departments, Technion, Israel Institute of Technology, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Rozenberg, Roberto" sort="Rozenberg, Roberto" uniqKey="Rozenberg R" first="Roberto" last="Rozenberg">Roberto Rozenberg</name><affiliation><nlm:aff id="A35">Molecular Genetics Lab, Department of Genetics and Evolutionary Biology, Bioscences Institute, University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><affiliation><nlm:aff id="A30">Parkinson's Disease and Geriatric Research Education and Clinical Centers, VA Puget Sound Health Care System, and Department of Neurology, University of Washington, Seattle, WA</nlm:aff></affiliation></author><author><name sortKey="Samaddar, Ted" sort="Samaddar, Ted" uniqKey="Samaddar T" first="Ted" last="Samaddar">Ted Samaddar</name><affiliation><nlm:aff id="A1">Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Schulte, Claudia" sort="Schulte, Claudia" uniqKey="Schulte C" first="Claudia" last="Schulte">Claudia Schulte</name><affiliation><nlm:aff id="A7">Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><affiliation><nlm:aff id="A7">Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation><nlm:aff id="A8">Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Spitz, Mariana" sort="Spitz, Mariana" uniqKey="Spitz M" first="Mariana" last="Spitz">Mariana Spitz</name><affiliation><nlm:aff id="A5">Movement Disorders Unit, Neurology Department, University of São Paulo Medical School, São Paulo, Brazil</nlm:aff></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><nlm:aff id="A39">Singapore General Hospital, National Neuroscience Institute, Singapore</nlm:aff></affiliation><affiliation><nlm:aff id="A40">Duke-NUS Graduate Medical School, Singapore</nlm:aff></affiliation></author><author><name sortKey="Tayebi, Nahid" sort="Tayebi, Nahid" uniqKey="Tayebi N" first="Nahid" last="Tayebi">Nahid Tayebi</name><affiliation><nlm:aff id="A1">Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><affiliation><nlm:aff id="A32">Division of Neurology and Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</nlm:aff></affiliation></author><author><name sortKey="Troiano, Andre" sort="Troiano, Andre" uniqKey="Troiano A" first="André" last="Troiano">André Troiano</name><affiliation><nlm:aff id="A10">INSERM, CRicm UMR_S975 (Formerly UMR_S679), Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Pierre et Marie Curie6 University, CRicmUMR_S975 CRicm, Department of Genetics and Cytogenetics, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name><affiliation><nlm:aff id="A31">Department of Neurology, University of Tokyo Graduate School of Medicine, Tokyo, Japan</nlm:aff></affiliation></author><author><name sortKey="Wittstock, Matthias" sort="Wittstock, Matthias" uniqKey="Wittstock M" first="Matthias" last="Wittstock">Matthias Wittstock</name><affiliation><nlm:aff id="A41">Department of Neurology, University of Rostock, Rostock, Germany</nlm:aff></affiliation></author><author><name sortKey="Wolfsberg, Tyra G" sort="Wolfsberg, Tyra G" uniqKey="Wolfsberg T" first="Tyra G." last="Wolfsberg">Tyra G. Wolfsberg</name><affiliation><nlm:aff id="A42">Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Wu, Yih Ru" sort="Wu, Yih Ru" uniqKey="Wu Y" first="Yih-Ru" last="Wu">Yih-Ru Wu</name><affiliation><nlm:aff id="A13">Department of Neurology, Chang Gung Memorial Hospital, Chang-Gung University College of Medicine, Taipei, Taiwan</nlm:aff></affiliation></author><author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name><affiliation><nlm:aff id="A30">Parkinson's Disease and Geriatric Research Education and Clinical Centers, VA Puget Sound Health Care System, and Department of Neurology, University of Washington, Seattle, WA</nlm:aff></affiliation></author><author><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name><affiliation><nlm:aff id="A39">Singapore General Hospital, National Neuroscience Institute, Singapore</nlm:aff></affiliation></author><author><name sortKey="Ziegler, Shira G" sort="Ziegler, Shira G" uniqKey="Ziegler S" first="Shira G." last="Ziegler">Shira G. Ziegler</name><affiliation><nlm:aff id="A1">Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff></affiliation></author></analytic><series><title level="j">The New England journal of medicine</title><idno type="ISSN">0028-4793</idno><idno type="eISSN">1533-4406</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P2">Recent studies indicate an increased frequency of mutations in the gene for Gaucher disease, glucocerebrosidase (<italic>GBA</italic>), among patients with Parkinson disease. An international collaborative study was conducted to ascertain the frequency of <italic>GBA</italic> mutations in ethnically diverse patients with Parkinson disease.</p></sec><sec sec-type="methods" id="S2"><title>Methods</title><p id="P3">Sixteen centers participated, including five from the Americas, six from Europe, two from Israel and three from Asia. Each received a standard DNA panel to compare genotyping results. Genotypes and phenotypic data from patients and controls were analyzed using multivariate logistic regression models and the Mantel Haenszel procedure to estimate odds ratios (ORs) across studies. The sample included 5691 patients (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews).</p></sec><sec id="S3"><title>Results</title><p id="P4">All 16 centers could detect <italic>GBA</italic> mutations, L444P and N370S, and the two were found in 15.3% of Ashkenazi patients with Parkinson disease (ORs = 4.95 for L444P and 5.62 for N370S), and in 3.2% of non-Ashkenazi patients (ORs = 9.68 for L444P and 3.30 for N370S). <italic>GBA</italic> was sequenced in 1642 non-Ashkenazi subjects, yielding a frequency of 6.9% for all mutations, demonstrate that limited mutation screens miss half the mutant alleles. The presence of any GBA mutation was associated with an OR of 5.43 across studies. Clinically, although phenotypes varied, subjects with a <italic>GBA</italic> mutation presented earlier, and were more likely to have affected relatives and atypical manifestations.</p></sec><sec id="S4"><title>Conclusion</title><p id="P5">Data collected from sixteen centers demonstrate that there is a strong association between <italic>GBA</italic> mutations and Parkinson disease.</p></sec></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">0255562</journal-id><journal-id journal-id-type="pubmed-jr-id">5985</journal-id><journal-id journal-id-type="nlm-ta">N Engl J Med</journal-id><journal-title>The New England journal of medicine</journal-title><issn pub-type="ppub">0028-4793</issn><issn pub-type="epub">1533-4406</issn></journal-meta><article-meta><article-id pub-id-type="pmid">19846850</article-id><article-id pub-id-type="pmc">2856322</article-id><article-id pub-id-type="doi">10.1056/NEJMoa0901281</article-id><article-id pub-id-type="manuscript">NIHMS184897</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Multi-center analysis of glucocerebrosidase mutations in Parkinson disease</article-title></title-group><contrib-group><contrib 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contrib-type="author"><name><surname>Marder</surname><given-names>Karen</given-names></name><degrees>M.D. M.P.H.</degrees><xref ref-type="aff" rid="A14">15</xref><xref ref-type="aff" rid="A17">18</xref><xref ref-type="aff" rid="A28">29</xref><xref ref-type="aff" rid="A29">30</xref></contrib><contrib contrib-type="author"><name><surname>Mata</surname><given-names>Ignacio F.</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A30">31</xref></contrib><contrib contrib-type="author"><name><surname>Mirelman</surname><given-names>Anat</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A22">23</xref></contrib><contrib contrib-type="author"><name><surname>Mitsui</surname><given-names>Jun</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A31">32</xref></contrib><contrib contrib-type="author"><name><surname>Mizuta</surname><given-names>Ikuko</given-names></name><degrees>M.D., Ph.D.</degrees><xref ref-type="aff" rid="A32">33</xref></contrib><contrib contrib-type="author"><name><surname>Nicoletti</surname><given-names>Giuseppe</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A33">34</xref></contrib><contrib contrib-type="author"><name><surname>Oliveira</surname><given-names>Catarina</given-names></name><degrees>M.D., Ph.D.</degrees><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A24">25</xref></contrib><contrib contrib-type="author"><name><surname>Ottman</surname><given-names>Ruth</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A28">29</xref><xref ref-type="aff" rid="A34">35</xref></contrib><contrib contrib-type="author"><name><surname>Orr-Urtreger</surname><given-names>Avi</given-names></name><degrees>M.D., Ph.D.</degrees><xref ref-type="aff" rid="A6">6</xref><xref ref-type="aff" rid="A19">20</xref></contrib><contrib contrib-type="author"><name><surname>Pereira</surname><given-names>Lygia V.</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A35">36</xref></contrib><contrib contrib-type="author"><name><surname>Quattrone</surname><given-names>Aldo</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A33">34</xref></contrib><contrib contrib-type="author"><name><surname>Rogaeva</surname><given-names>Ekaterina</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A36">37</xref></contrib><contrib contrib-type="author"><name><surname>Rolfs</surname><given-names>Arndt</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A37">38</xref></contrib><contrib contrib-type="author"><name><surname>Rosenbaum</surname><given-names>Hanna</given-names></name><degrees>M.D</degrees><xref ref-type="aff" rid="A38">39</xref></contrib><contrib contrib-type="author"><name><surname>Rozenberg</surname><given-names>Roberto</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A35">36</xref></contrib><contrib contrib-type="author"><name><surname>Samii</surname><given-names>Ali</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A30">31</xref></contrib><contrib contrib-type="author"><name><surname>Samaddar</surname><given-names>Ted</given-names></name><degrees>B.S.</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Schulte</surname><given-names>Claudia</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Sharma</surname><given-names>Manu</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Singleton</surname><given-names>Andrew</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Spitz</surname><given-names>Mariana</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Tan</surname><given-names>Eng-King</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A39">40</xref><xref ref-type="aff" rid="A40">41</xref></contrib><contrib contrib-type="author"><name><surname>Tayebi</surname><given-names>Nahid</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Toda</surname><given-names>Tatsushi</given-names></name><degrees>M.D., Ph.D.</degrees><xref ref-type="aff" rid="A32">33</xref></contrib><contrib contrib-type="author"><name><surname>Troiano</surname><given-names>André</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A10">10</xref><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Tsuji</surname><given-names>Shoji</given-names></name><degrees>M.D., Ph.D.</degrees><xref ref-type="aff" rid="A31">32</xref></contrib><contrib contrib-type="author"><name><surname>Wittstock</surname><given-names>Matthias</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A41">42</xref></contrib><contrib contrib-type="author"><name><surname>Wolfsberg</surname><given-names>Tyra G.</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A42">43</xref></contrib><contrib contrib-type="author"><name><surname>Wu</surname><given-names>Yih-Ru</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A13">14</xref></contrib><contrib contrib-type="author"><name><surname>Zabetian</surname><given-names>Cyrus P.</given-names></name><degrees>M.D., M.S.</degrees><xref ref-type="aff" rid="A30">31</xref></contrib><contrib contrib-type="author"><name><surname>Zhao</surname><given-names>Yi</given-names></name><degrees>M.D., Ph.D.</degrees><xref ref-type="aff" rid="A39">40</xref></contrib><contrib contrib-type="author"><name><surname>Ziegler</surname><given-names>Shira G.</given-names></name><degrees>B.A.</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="author-notes" rid="FN1">*</xref></contrib></contrib-group><aff id="A1"><label>1</label>Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA</aff><aff id="A2"><label>2</label>Department of Neurology, St. Olav’s Hospital and Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</aff><aff id="A3"><label>3</label>Cognitive Neurology and Movement Disorder Unit, Technion, Israel Institute of Technology, Haifa, Israel</aff><aff id="A4"><label>4</label>Institute of Neurological Sciences, National Research Council, Cosenza, Italy</aff><aff id="A5"><label>5</label>Movement Disorders Unit, Neurology Department, University of São Paulo Medical School, São Paulo, Brazil</aff><aff id="A6"><label>6</label>The Genetic Institute, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</aff><aff id="A7"><label>7</label>Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany</aff><aff id="A8"><label>8</label>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</aff><aff id="A9"><label>9</label>Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal</aff><aff id="A10"><label>10</label>INSERM, CRicm UMR_S975 (Formerly UMR_S679), Department of Genetics and Cytogenetics, Paris, France</aff><aff id="A11"><label>11</label>Pierre et Marie Curie6 University, CRicmUMR_S975 CRicm, Department of Genetics and Cytogenetics, Paris, France</aff><aff id="A12"><label>12</label>AP-HP, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics, Paris, France</aff><aff id="A13"><label>14</label>Department of Neurology, Chang Gung Memorial Hospital, Chang-Gung University College of Medicine, Taipei, Taiwan</aff><aff id="A14"><label>15</label>Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University College of Physicians and Surgeons, New York, NY</aff><aff id="A15"><label>16</label>Center for Human Genetics, Columbia University College of Physicians and Surgeons, New York, NY</aff><aff id="A16"><label>17</label>Department of Pathology, Columbia University College of Physicians and Surgeons, New York, NY</aff><aff id="A17"><label>18</label>Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY</aff><aff id="A18"><label>19</label>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</aff><aff id="A19"><label>20</label>The Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel</aff><aff id="A20"><label>21</label>Baruch Human Genetics Rambam Medical Center, Technion, Israel Institute of Technology, Haifa, Israel</aff><aff id="A21"><label>22</label>Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel</aff><aff id="A22"><label>23</label>Movement Disorders Unit, Parkinson Center, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel</aff><aff id="A23"><label>24</label>Booth Gardner Parkinson’s Care Center, Evergreen Hospital Medical Center, Kirkland, WA</aff><aff id="A24"><label>25</label>Neurology Service, University of Coimbra Hospital, Coimbra, Portugal</aff><aff id="A25"><label>26</label>Institute for Medical Psychology, University of Rostock, Rostock, Germany</aff><aff id="A26"><label>27</label>Movement Disorders Centre, Toronto Western Hospital, Department of Medicine, Division of Neurology, University of Toronto, Toronto, Canada</aff><aff id="A27"><label>28</label>Department of Life Science, National Taiwan Normal University, Taipei, Taiwan</aff><aff id="A28"><label>29</label>Gertrude H. Sergievsky Center, Columbia University College of Physicians and Surgeons, New York, NY</aff><aff id="A29"><label>30</label>Department of Psychiatry, Columbia University College of Physicians and Surgeons, New York, NY</aff><aff id="A30"><label>31</label>Parkinson's Disease and Geriatric Research Education and Clinical Centers, VA Puget Sound Health Care System, and Department of Neurology, University of Washington, Seattle, WA</aff><aff id="A31"><label>32</label>Department of Neurology, University of Tokyo Graduate School of Medicine, Tokyo, Japan</aff><aff id="A32"><label>33</label>Division of Neurology and Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan</aff><aff id="A33"><label>34</label>Institute of Neurology, Department of Medical Sciences, University Magna Graecia, Catanzaro, Italy</aff><aff id="A34"><label>35</label>Department of Epidemiology, Mailman School of Public Health, Columbia University and New York State Psychiatric Institute, New York, NY</aff><aff id="A35"><label>36</label>Molecular Genetics Lab, Department of Genetics and Evolutionary Biology, Bioscences Institute, University of São Paulo, São Paulo, Brazil</aff><aff id="A36"><label>37</label>Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, Toronto, Canada</aff><aff id="A37"><label>38</label>Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany</aff><aff id="A38"><label>39</label>Hematology and Bone Marrow Transplantation Departments, Technion, Israel Institute of Technology, Haifa, Israel</aff><aff id="A39"><label>40</label>Singapore General Hospital, National Neuroscience Institute, Singapore</aff><aff id="A40"><label>41</label>Duke-NUS Graduate Medical School, Singapore</aff><aff id="A41"><label>42</label>Department of Neurology, University of Rostock, Rostock, Germany</aff><aff id="A42"><label>43</label>Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA</aff><author-notes><corresp id="cor1"><label>+</label>Corresponding author: Ellen Sidransky M.D. <email>sidranse@mail.nih.gov</email>, Chief, Section on Molecular Neurogenetics, NHGRI, Room 1A213, 35 Convent Drive, MSC 3708, Bethesda, MD 20892-3708†, Phone: 301-451-0901, Fax: 301-402-6438</corresp><fn id="FN1"><label>*</label><p id="P1">Authors are listed in alphabetical order</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>20</day><month>3</month><year>2010</year></pub-date><pub-date pub-type="ppub"><day>22</day><month>10</month><year>2009</year></pub-date><pub-date pub-type="pmc-release"><day>19</day><month>4</month><year>2010</year></pub-date><volume>361</volume><issue>17</issue><fpage>1651</fpage><lpage>1661</lpage><abstract><sec id="S1"><title>Background</title><p id="P2">Recent studies indicate an increased frequency of mutations in the gene for Gaucher disease, glucocerebrosidase (<italic>GBA</italic>), among patients with Parkinson disease. An international collaborative study was conducted to ascertain the frequency of <italic>GBA</italic> mutations in ethnically diverse patients with Parkinson disease.</p></sec><sec sec-type="methods" id="S2"><title>Methods</title><p id="P3">Sixteen centers participated, including five from the Americas, six from Europe, two from Israel and three from Asia. Each received a standard DNA panel to compare genotyping results. Genotypes and phenotypic data from patients and controls were analyzed using multivariate logistic regression models and the Mantel Haenszel procedure to estimate odds ratios (ORs) across studies. The sample included 5691 patients (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews).</p></sec><sec id="S3"><title>Results</title><p id="P4">All 16 centers could detect <italic>GBA</italic> mutations, L444P and N370S, and the two were found in 15.3% of Ashkenazi patients with Parkinson disease (ORs = 4.95 for L444P and 5.62 for N370S), and in 3.2% of non-Ashkenazi patients (ORs = 9.68 for L444P and 3.30 for N370S). <italic>GBA</italic> was sequenced in 1642 non-Ashkenazi subjects, yielding a frequency of 6.9% for all mutations, demonstrate that limited mutation screens miss half the mutant alleles. The presence of any GBA mutation was associated with an OR of 5.43 across studies. Clinically, although phenotypes varied, subjects with a <italic>GBA</italic> mutation presented earlier, and were more likely to have affected relatives and atypical manifestations.</p></sec><sec id="S4"><title>Conclusion</title><p id="P5">Data collected from sixteen centers demonstrate that there is a strong association between <italic>GBA</italic> mutations and Parkinson disease.</p></sec></abstract><contract-num rid="AG1">Z01 AG000957-05
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