[en] [en] BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited.
OBJECTIVE: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD.
METHODS: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed.
RESULTS: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published.
CONCLUSIONS: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials.
Disciplines :
Neurology
Author, co-author :
Vollstedt, Eva-Juliane ; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
Schaake, Susen; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
Lohmann, Katja ; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
Padmanabhan, Shalini; Research Programs, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA
Brice, Alexis; Department of Neurology, Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France
Lesage, Suzanne; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Paris, France
Tesson, Christelle; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Paris, France
Vidailhet, Marie; Department of Neurology, Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France
Wurster, Isabel; Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Baden Wuerttemberg, Germany, Hertie Institute for Clinical Brain Research and German Centre for Neurodegenerative Diseases, Tuebingen, Germany
Hentati, Faycel; Mongi Ben Hmida National Institute of Neurology, Tunis, Tunisia
Mirelman, Anat ; Laboratory of Early Markers of Neurodegeneration, Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel, Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel
Giladi, Nir; Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel, Sackler School of Medicine, Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel
Marder, Karen; Department of Neurology, Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA
Waters, Cheryl; Department of Neurology, Columbia University, New York, New York, USA
Fahn, Stanley; Department of Neurology, Columbia University, New York, New York, USA
Kasten, Meike; Department of Psychiatry and Psychotherapy and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
Brüggemann, Norbert ; Department of Neurology and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
Borsche, Max ; Department of Neurology and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
Foroud, Tatiana; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA
Tolosa, Eduardo ; Parkinson Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona (UB), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED:CB06/05/0018-ISCIII), Barcelona, Spain
Garrido, Alicia; Parkinson Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona (UB), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED:CB06/05/0018-ISCIII), Barcelona, Spain
Annesi, Grazia; Institute of Biomedical Research and Innovation, National Research Council, Cosenza, Italy
Gagliardi, Monica; Institute of Biomedical Research and Innovation, National Research Council, Cosenza, Italy
Bozi, Maria; Parkinson's and Movement Disorders Unit, 2nd Department of Neurology of the University of Athens, Attikon Hospital, Haidari, Athens, Greece, Psychiatry Hospital of Attica "Dafni," Neurology Department, Haidari, Athens, Greece
Stefanis, Leonidas; First Department of Neurology, Medical School of the National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece
Ferreira, Joaquim J ; Laboratory of Clinical Pharmacology and Therapeutics, University of Lisbon, Lisbon, Portugal, Instituto de Medicina Molecular João Lobo Antunes, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
Correia Guedes, Leonor; Department of Neuroscience and Mental Health, Neurology Department, Hospital de Santa Maria, CHULN, Lisbon, Portugal, Instituto de Medicina Molecular João Lobo Antunes, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
Avenali, Micol; Neurorehabilitation Unit, IRCCS Mondino Foundation, Pavia, Italy, Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy
Petrucci, Simona; Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy, Sant' Andrea University Hospital, Rome, Italy
Clark, Lorraine; Department of Pathology and Cell Biology, Vagelos College of Physicians & Surgeons, Columbia University Irving Medical Center, New York, New York, USA, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, New York, USA, Laboratory of Personalized Genomic Medicine, Vagelos College of Physicians & Surgeons, Columbia University Irving Medical Center, New York, New York, USA
Fedotova, Ekaterina Y; Department of Neurogenetics, Research Center of Neurology, Moscow, Russia
Abramycheva, Natalya Y; Department of Neurogenetics, Research Center of Neurology, Moscow, Russia
Alvarez, Victoria ; Laboratório de Genética, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain
Menéndez-González, Manuel; Servicio Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain, Instituto de Investigación, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain
Jesús Maestre, Silvia; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain
Gómez-Garre, Pilar; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain
Mir, Pablo ; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain
Belin, Andrea Carmine; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden
Ran, Caroline; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden
Lin, Chin-Hsien; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan, Department of Neurology, National Taiwan University College of Medicine, Taipei, Taiwan
Kuo, Ming-Che ; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan, Department of Neurology, National Taiwan University College of Medicine, Taipei, Taiwan
Crosiers, David; Department of Neurology, Antwerp University Hospital, Edegem, Belgium, Born Bunge Institute, Department of Neurology, University of Antwerp, Wilrijk, Belgium, Center for Molecular Neurology, VIB, Wilrijk, Belgium
Wszolek, Zbigniew K; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
Ross, Owen A ; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA
Jankovic, Joseph; Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA
Nishioka, Kenya ; Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan
Funayama, Manabu; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Bunkyo, Tokyo, Japan
Clarimon, Jordi; Department of Neurology, Biomedical Research Institute IIB-Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain
Williams-Gray, Caroline H ; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
Camacho, Marta ; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
Cornejo-Olivas, Mario ; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru, Center for Global Health, Universidad Peruana Cayetano Heredia, Lima, Peru
Torres-Ramirez, Luis; Movement Disorders Unit, Instituto Nacional de Ciencias Neurologicas, Lima, Peru
Wu, Yih-Ru ; Department of Neurology, Chang Gung University, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan
Lee-Chen, Guey-Jen; Department of Life Science, National Taiwan Normal University, Taipei, Taiwan
Morgadinho, Ana; Movement Disorders Clinic, Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
Pulkes, Teeratorn; Division of Neurology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Termsarasab, Pichet ; Division of Neurology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Berg, Daniela; Department of Neurology, Christian-Albrechts-Universität, Kiel, Germany
Kuhlenbäumer, Gregor; Department of Neurology, Christian-Albrechts-Universität, Kiel, Germany
Kühn, Andrea A; Movement Disorder and Neuromodulation Unit, Charité, Universitätsmedizin Berlin, Department of Neurology, Berlin, Germany
Borngräber, Friederike ; Movement Disorder and Neuromodulation Unit, Charité, Universitätsmedizin Berlin, Department of Neurology, Berlin, Germany
de Michele, Giuseppe; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy
De Rosa, Anna; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy
Zimprich, Alexander ; Department of Neurology, Medical University, Vienna, Austria
Puschmann, Andreas; Department of Neurology, Clinical Sciences, Lund University, Lund, Sweden, Department of Neurology, Skåne University, Lund, Sweden
Mellick, George D; Griffith Institute for Drug Discovery (GRIDD), School of Environment and Science, Griffith University, Brisbane, Queensland, Australia
Dorszewska, Jolanta; Laboratory of Neurobiology, Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland
Carr, Jonathan; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa
Ferese, Rosangela; IRCCS Neuromed, Localita' Camerelle, Pozzilli, Isernia, Italy, Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy
Gambardella, Stefano ; IRCCS Neuromed, Localita' Camerelle, Pozzilli, Isernia, Italy, Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy
Chase, Bruce ; Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA
Markopoulou, Katerina; Department of Neurology, NorthShore University HealthSystem, Evanston Illinois and Department of Neurology, University of Chicago, Chicago, Illinois, USA
Satake, Wataru; Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina, Argentine National Scientific and Technological Research Council (CONICET), Buenos Aires, Argentina
Toda, Tatsushi; Department of Neurology, The University of Tokyo, Tokyo, Japan
Rossi, Malco; Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina, Argentine National Scientific and Technological Research Council (CONICET), Buenos Aires, Argentina
Merello, Marcelo; Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina, Argentine National Scientific and Technological Research Council (CONICET), Argentina, Pontificia Universidad Católica Argentina (UCA), Buenos Aires, Argentina
Lynch, Timothy; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland, School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland
Olszewska, Diana A ; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland, School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland
Lim, Shen-Yang; Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
Ahmad-Annuar, Azlina; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
Tan, Ai Huey ; Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
Al-Mubarak, Bashayer; Behavioural Genetics Unit, Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Hanagasi, Hasmet; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
Koziorowski, Dariusz; Department of Neurology, Medical University in Warsaw, Warsaw, Poland
Ertan, Sibel; Department of Neurology, School of Medicine, Koç University, Istanbul, Turkey
Genç, Gençer; Department of Neurology, University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, İstanbul, Turkey
de Carvalho Aguiar, Patricia; Hospital Israelita Albert Einstein, São Paulo, Brazil, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil
Barkhuizen, Melinda ; DST/NWU Preclinical Drug Development Platform, North-West University, Potchefstroom, North-West, South Africa
Pimentel, Marcia M G; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil
Saunders-Pullman, Rachel; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA
van de Warrenburg, Bart; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands
Bressman, Susan; Department of Neurology, Beth Israel Medical Center, New York, New York, USA, Department of Neurology at Albert Einstein College of Medicine, New York, New York, USA
Toft, Mathias; Department of Neurology, Oslo University Hospital, Oslo, Norway, Institute of Clinical Medicine, University of Oslo, Oslo, Norway
Appel-Cresswell, Silke ; Pacific Parkinson's Research Centre, Division of Neurology, Department of Medicine, Vancouver, British Columbia, Canada
Lang, Anthony E; Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Toronto, Ontario, Canada
Skorvanek, Matej ; Department of Neurology, Pavol Jozef Šafárik University in Košice, Košice, Slovakia, Department of Neurology, University Hospital L. Pasteur, Kosice, Slovakia
Boon, Agnita J W; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
Krüger, Rejko; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg, Transversal Translational Medicine, Luxembourg Institute of Health (LIH), Strassen, Luxembourg, Parkinson Research Clinic, Centre Hospitalier de Luxembourg (CHL), Luxembourg, Luxembourg
Sammler, Esther M ; Neurology Department, Ninewells Hospital and Medical School, Dundee, United Kingdom, MRC Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK
Tumas, Vitor; Behavioral and Movement Disorders Section, Ribeirão Preto Medical School, University of São Paulo, Brazil
Zhang, Bao-Rong ; Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
Garraux, Gaëtan ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie du système nerveux
Chung, Sun Ju ; Medical Genetic Center, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea
Kim, Yun Joong; Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea, Department of Neurology, Yongin Severance Hospital, Yonsei University Health System, Yongin, South Korea
Winkelmann, Juliane; Institute of Neurogenomics, Helmholtz Zentrum Muenchen, Neuherberg, Germany, Neurogenetics, Technische Universitaet Muenchen, Munich, Germany, Institute of Human Genetics, Klinikum rechts der Isar der TUM, Munich, Germany, Munich Cluster for Systems Neurology (SyNergy), Munich, Germany
Sue, Carolyn M; Department of Neurogenetics, Kolling Institute, University of Sydney, Sydney, New South Wales, Australia, Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
Tan, Eng-King; Department of Neurology, National Neuroscience Institute, Duke NUS Medical School, Singapore General Hospital, Singapore, Singapore
Damásio, Joana; Department of Neurology, Hospital de Santo António - Centro Hospitalar Universitário do Porto, Porto, Portugal, UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Portugal
Klivényi, Péter; Department of Neurology, University of Szeged, Szeged, Hungary
Kostic, Vladimir S; Department for Neurodegeneration, Clinic for Neurology CCS, Belgrade, Serbia
Arkadir, David; Department of Neurology, Hadassah Medical Center and the Hebrew University, Jerusalem, Israel
Martikainen, Mika; Neurocenter, Turku University Hospital, Turku, Finland, Clinical Neurosciences, Faculty of Medicine, University of Turku, Turku, Finland
Borges, Vanderci; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil
Hertz, Jens Michael; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark
Brighina, Laura; Department of Neurology, Milan Center for Neuroscience, University of Milano-Bicocca/San Gerardo Hospital, Monza, Italy
Spitz, Mariana; Neurology Service, State University of Rio de Janeiro, Rio de Janeiro, Brazil
Suchowersky, Oksana; Department of Medicine, Medical Genetics and Pediatrics, University of Alberta, Edmonton, Alberta, Canada
Riess, Olaf; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany
Das, Parimal; Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India
Mollenhauer, Brit; Movement Disorder Paracelsus-Elena-Klinik, Kassel, Germany, Department of Neurology, University Medical Center Göttingen, Göttingen, Germany
Gatto, Emilia M; Movement Disorders, Department of Neurology, Instituto de Neurosciencias Buenos Aires, Buenos Aires, Argentina
Petersen, Maria Skaalum; Centre of Health Science, University of the Faroe Islands, Tórshavn, Faroe Islands, Department of Occupational Medicine and Public Health, The Faroese Hospital System, Tórshavn, Faroe Islands
Hattori, Nobutaka; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Bunkyo, Tokyo, Japan
Wu, Ruey-Meei; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan, Department of Neurology, National Taiwan University College of Medicine, Taipei, Taiwan
Illarioshkin, Sergey N; Department of Neurogenetics, Research Center of Neurology, Moscow, Russia
Valente, Enza Maria; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Department of Molecular Medicine, University of Pavia, Pavia, Italy
Aasly, Jan O; Department of Neurology, St. Olavs Hospital, Trondheim, Norway ; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway
Aasly, Anna; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway
Alcalay, Roy N; Department of Neurology, Columbia University, New York, New York, USA
Thaler, Avner; Movement Disorders, Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel, Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
Farrer, Matthew J; Fixel Institute, Department of Neurology, University of Florida, Gainesville, Florida, USA
Brockmann, Kathrin; Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Baden Wuerttemberg, Germany, Hertie Institute for Clinical Brain Research and German Centre for Neurodegenerative Diseases, Tuebingen, Germany
Corvol, Jean-Christophe; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Neurology, Paris, France
Klein, Christine; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
MJFF Global Genetic Parkinson's Disease Study Group
MJFF - Michael J. Fox Foundation for Parkinson's Research [US-NY] NIHR Cambridge BRC - NIHR Cambridge Biomedical Research Centre [GB]
Funding text :
Carolyn M. Sue: Intellectual Property Rights: WO 2015/157794 A1. Advisory Boards: AbbVie. Employment: Northern Sydney Local Health District, Sydney, Australia. Honoraria: The International Movement Disorder Society for course directorships and invited lectures. Patents: WO 2015/157794 A1. Grants: 2018–22 NHMRC Partnership grant (APP1151906); 2018–22 MRFF NHMRC Practitioner Fellowship (App1136800); 2020–2025 NHMRC Partnership grant (APP11179029); 2020–2023 NHMRC Ideas Grant (APP1184403); 2021–5 MRFF 2020 Genomics Health Futures Mission Grant (APP2007959); 2021–23 ASAP Project grantNatalya Y. Abramycheva: Employment: Research Center of Neurology, Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia. Grants: Russian Science FoundationRachel Saunders‐Pullman: Employment: Icahn School of Medicine at Mount Sinai, New York City, New York, USA. Grants: NIH 1U01NS107016‐01A1; Bigglesworth Family Foundation. Others: Bachmann‐Strauss ChairZbigniew K. Wszolek: Advisory Boards: Vigil Neuroscience, Inc. Employment: Mayo Clinic, Jacksonville, Florida, USA. Grants: NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, PI or co‐PI on Biohaven Pharmaceuticals, Inc. (BHV4157‐206 and BHV3241‐301), Neuraly, Inc. (NLY01‐PD‐1), and Vigil Neuroscience, Inc. (VGL101‐01.001 and VGL101‐01.002). He also serves as the co‐PI of the Mayo Clinic APDA Center for Advanced Research. Others: Donations from the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research FoundationVladimir S. Kostic: Employment: School of Medicine, University of Belgrade, Serbia. Grants: Project No 175090 Ministry of Education, Science and Technological Development of Serbia. Project Ф‐28 Serbian Academy of Science and ArtsDaniela Berg: Consultancies: Biogen, BIAL, UCB Pharma GmbH, AC Immune SA. Advisory Boards: Biogen, BIAL, UCB Pharma GmbH, AC Immune SA. Employment: Kiel University, Kiel, Germany. Grants: Deutsche Forschungsgemeinschaft (DFG), German Parkinson's Disease Association (dPV), BMBF, Parkinson Fonds Deutschland gGmbH, UCB Pharma GmbH, EU, Novartis Pharma GmbH, Lundbeck, Damp Foundation, The Michael J. Fox FoundationMatej Skorvanek: Consultancies: Medis. Advisory Boards: AbbVie, Stada. Employment: University of P. J. Safarik, Kosice, Slovakia, University Hospital L. Pasteur, Kosice, Slovakia. Contracts: Ministry of Healthcare, Slovakia, Paneuropean University, Bratislava, Slovakia. Honoraria: AbbVie, Boston Scientific, Krka, Medtronic, Stada, UCB. Grants: Operational Programme Integrated Infrastructure, funded by the ERDF [ITMS2014+:313011V455]; Slovak Grant and Development Agency [APVV‐18‐0547]Pablo Mir: Employment: University of Seville, Seville, Spain. Honoraria: Abbott, Allergan, AbbVie, Bial, Britannia, Italfarmaco, Merz, UCB, Teva, and Zambon. Grants: Spanish Ministry of Science and Innovation [RTC2019‐007150‐1], the Instituto de Salud Carlos III‐Fondo Europeo de Desarrollo Regional (ISCIII‐FEDER) [PI18/01898], the Consejería de Economía, Innovación, Ciencia y Empleo de la Junta de Andalucía [CVI‐02526, CTS‐7685], the Consejería de Salud y Bienestar Social de la Junta de Andalucía [PI‐0471‐2013, PE‐0210‐2018, PI‐0459‐2018, PE‐0186‐2019], and the Fundación Alicia KoplowitzGeorge D. Mellick: Employment: Griffith University, Brisbane, Australia. Grants: Australian NHMRC, AEGIUM Foundation Queensland, Griffith University, Philanthropic DonorsThis project was funded by The Michael J. Fox Foundation (ID 15015.02). Funding agency:Roy N. Alcalay: RNA is funded by the NIH, DoD, the Parkinson's Foundation, and The Michael J. Fox Foundation. Consultancy: Avrobio, Caraway, GSK, Merck, Ono Therapeutics, and Genzyme/SanofiManabu Funayama: Employment: Juntendo University, Tokyo, Japan. Grants: (1) JSPS KAKENHI [grant numbers 19K08003 and 20K07878]. Subsidies for Current Expenditures to Private Institutions of Higher Education from the Promotion and Mutual Aid Corporation for Private Schools of Japan.Joseph Jankovic: Consultancies: AbbVie, Aeon BioPharma, Neurocrine, Revance Therapeutics, Teva Pharmaceutical Industries Ltd. Advisory Boards: AbbVie., Teva Pharmaceutical Industries Ltd. Employment: Baylor College of Medicine, Houston, Texas. Honoraria: Movement Disorders Society; Massachusetts General Hospital. Royalties: Cambridge, Elsevier, Medlink Neurology, Lippincott Williams and Wilkins, UpToDate, Wiley‐Blackwell. Grants: AbbVie, CHDI Foundation, Dystonia Coalition, Emalex Biosciences, Inc., Medtronic Neuromodulation, Michael J. Fox Foundation for Parkinson Research, Parkinson's Foundation, Revance Therapeutics, Inc., Teva Pharmaceutical Industries Ltd.Brit Mollenhauer: Consultancies: AbbVie, Servier, and Amprion. Advisory Boards: Roche, Biogen, 4D Pharma PLC. Employment: Paracelsus‐Kliniken Deutschland and University Medical Center, Göttingen, Germany. Contracts: A member of the executive steering committee of the Parkinson Progression Marker Initiative and PI of the Systemic Synuclein Sampling Study of The Michael J. Fox Foundation for Parkinson's Research other than the ones mentioned earlier. Grants: Deutsche Forschungsgemeinschaft (DFG), EU (Horizon2020), Parkinson Fonds Deutschland, Deutsche Parkinson Vereinigung, Parkinson's Foundation, Hilde‐Ulrichs‐Stiftung für Parkinsonforschung, Aligning Science Across Parkinson's (ASAP), and The Michael J. Fox Foundation for Parkinson's ResearchEsther M. Sammler: Advisory Boards: ABN Neurogenetics working group. Employment: University of Dundee, Dundee, UK. Grants: CSO Senior Clinical Fellowship, MJFF, Tenovus grantsCaroline H. Williams‐Gray: Consultancies: Evidera, Inc. Employment: University of Cambridge, UK and Cambridge University Hospitals NHS Trust, Cambridge, UK. Honoraria: GSK. Grants: Cure Parkinson's, Parkinson's UK, The Evelyn Trust, NIHR Biomedical Research Centre (BRC‐1215‐20014), Cambridge Centre for Parkinson‐Plus, RCUK/UKRI Research Innovation, Fellowship awarded by the Medical Research Council (MR/R007446/1)Andrea Carmine Belin: Employment: Karolinska Institutet, Stockholm, Spain. Grants: Swedish Brain Foundation and the Mellby Gård Foundation, Region Stockholm (ALF project), Karolinska Institutet Research FundsOwen A. Ross: Employment: Mayo Clinic, Jacksonville, Florida, USA. Grants: National Institute of Health/National Institute of Neurological Disorders and Stroke (NIH/NINDS) [R01 NS085070 and U54 NS110435], the Department of Defense Congressionally Directed Medical Research Programs (CDMRP) [W81XWH‐17‐1‐0249], The Michael J. Fox Foundation for Parkinson's Research (MJFF), the American Parkinson Disease Association (APDA), and American Brain Foundation.Nobutaka Hattori: Stock ownership in medically related fields: Equity stock (8%) of PARKINSON Laboratories Co. Ltd., Intellectual Property Rights: Pendint: One PCT/JP2021/034721. Consultancies: Kyowa Kirin, PARKINSON Laboratories Co. Ltd., Dai‐Nippon Sumitomo Pharma, Teijin Pharma Limited, Takeda Pharmaceutical, Biogen Idec Japan. Expert Testimony: Mitsubishi Tanabe Pharma, Medtronic, Inc. Advisory Boards: Dai‐Nippon Sumitomo Pharma, Takeda Pharmaceutical, Kyowa Kirin, Teijin Pharma Limited, Novartis Pharma, Ono Pharmaceutical, AbbVie GK, TOWA PHARMACEUTICAL. Employment: Juntendo University, Tokyo, Japan. Team Leader: Neurodegenerative Disorders Collaborative Laboratory, RIKEN Center for Brain Science. Honoraria: Dai‐Nippon Sumitomo Pharma, Takeda Pharmaceutical, Kyowa Kirin, AbbVie GK, Otsuka Pharmaceutical, Novartis Pharma, Teijin Pharma Limited, Pfizer Japan, Inc., Ono Pharmaceutical, Eisai, Nihon Medi‐physics, Daiichi Sankyo. Grants: Public Research Funds: Japan Society for the Promotion of Science (JSPS), Japan Agency for Medical Research and Development (AMED), Health Labour Sciences Research Grant, Japan Science and Technology Agency(JST). Grants: FP Pharmaceutical. Others: Grants and Endowed Departments and Joint Research Departments: Medtronic, Inc., Boston Scientific, TEIJIN PHARMA, AbbVie GK, FP Pharmaceutical, Dai‐Nippon Sumitomo Pharma, Nihon Medi‐physics, Eisai, Kirin Holdings, Mitsubishi UFJ Trust and Banking Co., GLORY LTD., Otsuka Pharmaceutical, Meiji Seika Pharma, Ono Pharmaceutical, FUJIFILM Wako Pure Chemical, Sunwels, Inc., OHARA Pharmaceutical, PARKINSON Laboratories Co. Ltd, Kyowa Kirin Co., Ltd, Takeda Pharma Co., Ltd, Mitsubishi Tanabe PharmaOlaf Riess: Employment: The University Tübingen, Tübingen, Germany. Grants: SOLVE‐RD (EU), ZSE‐DUO (Innovation grant), ZPM Innovation (Ministry of Research), DFG Ri 682/19‐1, DFG Ri 682/20‐1, DFG NGS‐CCN NCCTShen‐Yang Lim: Consultancies: The Michael J. Fox Foundation, Lundbeck International Neuroscience Foundation Editorial Board. Advisory Boards: Eisai. Employment: University of Malaya, Kuala Lumpur, Malaysia. Honoraria: International Parkinson and Movement Disorder Society (MDS), International Brain Research Organization (IBRO), Lundbeck, Medtronic. Grants: The Michael J. Fox Foundation, Malaysian Ministry of Education Fundamental Research Grant SchemeAi Huey Tan: Consultancies: Global Parkinson Genetics Program (GP2). Employment: University of Malaya, Kuala Lumpur, Malaysia. Grants: The Michael J. Fox Foundation; Toray Science Foundation; Malaysia Ministry of Higher Education Fundamental Research Grant SchemeWataru Satake: Employment: University of Tokyo, Tokyo, Japan. Grants: AMED (grant numbers 17ek0109207h0001 and 22kk030517h0001) and JSPS (under grant numbers 21H02836 and 17H04056).
Domingo A, Klein C. Genetics of Parkinson disease. 2018. p. 211–27.
Skrahina V, Gaber H, Vollstedt E, Förster TM, Usnich T, Curado F, et al. The Rostock international Parkinson's disease (ROPAD) study: protocol and initial findings. Mov Disord 2021;36(4):1005–10.
Mullin S, Smith L, Lee K, D'Souza G, Woodgate P, Elflein J, et al. Ambroxol for the treatment of patients with Parkinson disease with and without glucocerebrosidase gene mutations: a nonrandomized, noncontrolled trial. JAMA Neurol 2020;77(4):427–434.
Prasuhn J, Brüggemann N. Genotype-driven therapeutic developments in Parkinson's disease. Mol Med (Cambridge, MA) 2021;27(1):42.
Dorsey ER, Constantinescu R, Thompson JP, Biglan KM, Holloway RG, Kieburtz K, et al. Projected number of people with Parkinson disease in the most populous nations, 2005 through 2030. Neurology 2007;68(5):384–386.
Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt E-J, et al. Genotype-phenotype relations for the Parkinson's disease genes parkin, PINK1, DJ1: MDSGene systematic review. Mov Disord 2018;33(5):730–741.
Trinh J, Zeldenrust FMJ, Huang J, Kasten M, Schaake S, Petkovic S, et al. Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review. Mov Disord 2018;33(12):1857–70.
Hentati F, Trinh J, Thompson C, Nosova E, Farrer MJ, Aasly JO. LRRK2 parkinsonism in Tunisia and Norway: a comparative analysis of disease penetrance. Neurology 2014;83(6):568–569.
Vollstedt E, Kasten M, Klein C, Aasly J, Adler C, Ahmad-Annuar A, et al. Using global team science to identify genetic Parkinson's disease worldwide. Ann Neurol 2019;86(2):153–157.
Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, et al. Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations. Brain 2015;138(9):2648–2658.
Tabrizi SJ, Leavitt BR, Landwehrmeyer GB, Wild EJ, Saft C, Barker RA, et al. Targeting huntingtin expression in patients with Huntington's disease. N Engl J Med 2019;380(24):2307–2316. https://doi.org/10.1056/NEJMoa1900907
Global Parkinson's Genetics Program. GP2: the global Parkinson's genetics program. Mov Disord 2021;36(4):842–851.
