. 2023 Feb;38(2):286-303.

doi: 10.1002/mds.29288. Epub 2023 Jan 24.

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Eva-Juliane Vollstedt¹, Susen Schaake¹, Katja Lohmann¹, Shalini Padmanabhan², Alexis Brice³, Suzanne Lesage⁴, Christelle Tesson⁴, Marie Vidailhet³, Isabel Wurster⁵, Faycel Hentati⁶, Anat Mirelman⁷, Nir Giladi⁸, Karen Marder⁹, Cheryl Waters¹⁰, Stanley Fahn¹⁰, Meike Kasten¹¹, Norbert Brüggemann¹², Max Borsche¹², Tatiana Foroud¹³, Eduardo Tolosa¹⁴, Alicia Garrido¹⁴, Grazia Annesi¹⁵, Monica Gagliardi¹⁵, Maria Bozi¹⁶, Leonidas Stefanis¹⁷, Joaquim J Ferreira¹⁸, Leonor Correia Guedes¹⁹, Micol Avenali²⁰, Simona Petrucci²¹, Lorraine Clark²², Ekaterina Y Fedotova²³, Natalya Y Abramycheva²³, Victoria Alvarez²⁴, Manuel Menéndez-González²⁵, Silvia Jesús Maestre²⁶, Pilar Gómez-Garre²⁶, Pablo Mir²⁶, Andrea Carmine Belin²⁷, Caroline Ran²⁷, Chin-Hsien Lin²⁸, Ming-Che Kuo²⁸, David Crosiers²⁹, Zbigniew K Wszolek³⁰, Owen A Ross³¹, Joseph Jankovic³², Kenya Nishioka³³, Manabu Funayama³⁴, Jordi Clarimon³⁵, Caroline H Williams-Gray³⁶, Marta Camacho³⁶, Mario Cornejo-Olivas³⁷, Luis Torres-Ramirez³⁸, Yih-Ru Wu³⁹, Guey-Jen Lee-Chen⁴⁰, Ana Morgadinho⁴¹, Teeratorn Pulkes⁴², Pichet Termsarasab⁴², Daniela Berg⁴³, Gregor Kuhlenbäumer⁴³, Andrea A Kühn⁴⁴, Friederike Borngräber⁴⁴, Giuseppe de Michele⁴⁵, Anna De Rosa⁴⁵, Alexander Zimprich⁴⁶, Andreas Puschmann⁴⁷, George D Mellick⁴⁸, Jolanta Dorszewska⁴⁹, Jonathan Carr⁵⁰, Rosangela Ferese⁵¹, Stefano Gambardella⁵¹, Bruce Chase⁵², Katerina Markopoulou⁵³, Wataru Satake⁵⁴, Tatsushi Toda⁵⁵, Malco Rossi⁵⁴, Marcelo Merello⁵⁶, Timothy Lynch⁵⁷, Diana A Olszewska⁵⁷, Shen-Yang Lim⁵⁸, Azlina Ahmad-Annuar⁵⁹, Ai Huey Tan⁵⁸, Bashayer Al-Mubarak⁶⁰, Hasmet Hanagasi⁶¹, Dariusz Koziorowski⁶², Sibel Ertan⁶³, Gençer Genç⁶⁴, Patricia de Carvalho Aguiar⁶⁵, Melinda Barkhuizen⁶⁶, Marcia M G Pimentel⁶⁷, Rachel Saunders-Pullman⁶⁸, Bart van de Warrenburg⁶⁹, Susan Bressman⁷⁰, Mathias Toft⁷¹, Silke Appel-Cresswell⁷², Anthony E Lang⁷³, Matej Skorvanek⁷⁴, Agnita J W Boon⁷⁵, Rejko Krüger⁷⁶, Esther M Sammler⁷⁷, Vitor Tumas⁷⁸, Bao-Rong Zhang⁷⁹, Gaetan Garraux⁸⁰, Sun Ju Chung⁸¹, Yun Joong Kim⁸², Juliane Winkelmann⁸³, Carolyn M Sue⁸⁴, Eng-King Tan⁸⁵, Joana Damásio⁸⁶, Péter Klivényi⁸⁷, Vladimir S Kostic⁸⁸, David Arkadir⁸⁹, Mika Martikainen⁹⁰, Vanderci Borges⁹¹, Jens Michael Hertz⁹², Laura Brighina⁹³, Mariana Spitz⁹⁴, Oksana Suchowersky⁹⁵, Olaf Riess⁹⁶, Parimal Das⁹⁷, Brit Mollenhauer⁹⁸, Emilia M Gatto⁹⁹, Maria Skaalum Petersen¹⁰⁰, Nobutaka Hattori³⁴, Ruey-Meei Wu²⁸, Sergey N Illarioshkin²³, Enza Maria Valente¹⁰¹, Jan O Aasly^{102

103}, Anna Aasly¹⁰⁴, Roy N Alcalay¹⁰, Avner Thaler¹⁰⁵, Matthew J Farrer¹⁰⁶, Kathrin Brockmann⁵, Jean-Christophe Corvol¹⁰⁷, Christine Klein¹; MJFF Global Genetic Parkinson's Disease Study Group

Collaborators, Affiliations

Collaborators

MJFF Global Genetic Parkinson's Disease Study Group:
Anna Aasly, Jan O Aasly, Natalya Y Abramycheva, Azlina Ahmad-Annuar, Alberto Albanese, Roy N Alcalay, Amaal Aldakheel, Thamer Alkhairallah, Bashayer Al-Mubarak, Nada Al-Tassan, Victoria Alvarez, Paolo Amami, Grazia Annesi, Silke Appel-Cresswell, Marco Antonio Araujo Leite, David Arkadir, Micol Avenali, Henrique Ballalai Ferraz, Soraya Bardien, Melinda Barkhuizen, Matthew J Barrett, A Nazlı Başak, Daniela Berg, Basar Bilgic, Bastiaan R Bloem, Vincenzo Bonifati, Agnita J W Boon, Vanderci Borges, Friederike Borngräber, Max Borsche, Maria Bozi, Susan Bressman, Alexis Brice, Laura Brighina, Kathrin Brockmann, Norbert Brüggemann, Marta Camacho, Andrea Carmine Belin, Jonathan Carr, Martin Emiliano Cesarini, Mario Cornejo-Olivas, Bruce Chase, Sun Ju Chung, Leonor Correia Guedes, Jordi Clarimon, Lorraine Clark, Jean-Christophe Corvol, David Crosiers, Parimal Das, Patricia de Carvalho Aguiar, Joana Damásio, Giuseppe de Michele, Anna De Rosa, Elena Dieguez, Jolanta Dorszewska, Sibel Ertan, Stanley Fahn, Matthew J Farrer, Ekaterina Y Fedotova, Rosangela Ferese, Joaquim J Ferreira, Tatiana Foroud, Manabu Funayama, Victor S C Fung, Monica Gagliardi, Stefano Gambardella, Gaetan Garraux, Alicia Garrido, Emilia M Gatto, Gençer Genç, Nir Giladi, Pilar Gómez-Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycel Hentati, Jens Michael Hertz, Sergey N Illarioshkin, Joseph Jankovic, Cristina Januario, Silvia Jesús Maestre, Valtteri Kaasinen, Meike Kasten, Hiroshi Kataoka, Anneke A Kievit, Yun Joong Kim, Christine Klein, Péter Klivényi, Vladimir S Kostic, Dariusz Koziorowski, Rejko Krüger, Andrea A Kühn, Gregor Kuhlenbäumer, Ming-Che Kuo, Anthony E Lang, Guey-Jen Lee-Chen, Suzanne Lesage, Jia Lun Lim, Shen-Yang Lim, Chin-Hsien Lin, Katja Lohmann, Timothy Lynch, Karen Marder, Katerina Markopoulou, Mika Martikainen, Patrick May, Allan McCarthy, George D Mellick, Manuel Menéndez-González, Marcelo Merello, Pablo Mir, Anat Mirelman, Brit Mollenhauer, Hugo Morales Briceno, Ana Morgadinho, Huw Morris, Alexandra Mosejova, Kenya Nishioka, Özgür Öztop Çakmak, Diana A Olszewska, Avi Orr-Urtreger, Sinthuja Pachchek, Shalini Padmanabhan, Maria Teresa Periñán, Simona Petrucci, Marcia M G Pimentel, Radha Procopio, Teeratorn Pulkes, Andreas Puschmann, Caroline Ran, Olaf Riess, Owen A Ross, Malco Rossi, Javier Ruiz-Martinez, Esther M Sammler, João Santos Pereira, Wataru Satake, Rachel Saunders-Pullman, Susen Schaake, Maria Skaalum Petersen, Matej Skorvanek, Leonidas Stefanis, Alexandra I Soto-Beasley, Mário Sousa, Mariana Spitz, Oksana Suchowersky, Carolyn M Sue, Ai Huey Tan, Eng-King Tan, Avner Thaler, Fatih Tepgeç, Pichet Termsarasab, Christelle Tesson, Tatsushi Toda, Mathias Toft, Eduardo Tolosa, Luis Torres-Ramirez, Vitor Tumas, Oya Uyguner, Enza Maria Valente, Bart van de Warrenburg, Marie Vidailhet, Eva-Juliane Vollstedt, Ronald L Walton, Cheryl Waters, Caroline H Williams-Gray, Juliane Winkelmann, Yih-Ru Wu, Isabel Wurster, Zbigniew K Wszolek, Ruey-Meei Wu, Bao-Rong Zhang, Alexander Zimprich

Affiliations

¹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
² Research Programs, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA.
³ Department of Neurology, Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
⁴ Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.
⁵ 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.
⁶ Mongi Ben Hmida National Institute of Neurology, Tunis, Tunisia.
⁷ 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.
⁸ Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel.
⁹ Department of Neurology, Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA.
¹⁰ Department of Neurology, Columbia University, New York, New York, USA.
¹¹ Department of Psychiatry and Psychotherapy and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
¹² Department of Neurology and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
¹³ Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
¹⁴ 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.
¹⁵ Institute of Biomedical Research and Innovation, National Research Council, Cosenza, Italy.
¹⁶ 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.
¹⁷ First Department of Neurology, Medical School of the National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.
¹⁸ 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.
¹⁹ 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.
²⁰ Neurorehabilitation Unit, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
²¹ Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy; Sant' Andrea University Hospital, Rome, Italy.
²² 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.
²³ Department of Neurogenetics, Research Center of Neurology, Moscow, Russia.
²⁴ Laboratório de Genética, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.
²⁵ Servicio Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain; Instituto de Investigación; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.
²⁶ 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.
²⁷ Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
²⁸ Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Neurology, National Taiwan University College of Medicine, Taipei, Taiwan.
²⁹ 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.
³⁰ Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
³¹ Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
³² Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
³³ Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan.
³⁴ Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Bunkyo, Tokyo, Japan.
³⁵ 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.
³⁶ Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
³⁷ Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru; Center for Global Health, Universidad Peruana Cayetano Heredia, Lima, Peru.
³⁸ Movement Disorders Unit, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.
³⁹ Department of Neurology, Chang Gung University, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.
⁴⁰ Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.
⁴¹ Movement Disorders Clinic, Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
⁴² Division of Neurology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
⁴³ Department of Neurology, Christian-Albrechts-Universität, Kiel, Germany.
⁴⁴ Movement Disorder and Neuromodulation Unit, Charité, Universitätsmedizin Berlin, Department of Neurology, Berlin, Germany.
⁴⁵ Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
⁴⁶ Department of Neurology, Medical University, Vienna, Austria.
⁴⁷ Department of Neurology, Clinical Sciences, Lund University, Lund, Sweden; Department of Neurology, Skåne University, Lund, Sweden.
⁴⁸ Griffith Institute for Drug Discovery (GRIDD), School of Environment and Science, Griffith University, Brisbane, Queensland, Australia.
⁴⁹ Laboratory of Neurobiology, Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.
⁵⁰ Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
⁵¹ IRCCS Neuromed, Localita' Camerelle, Pozzilli, Isernia, Italy; Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy.
⁵² Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA.
⁵³ Department of Neurology, NorthShore University HealthSystem, Evanston Illinois and Department of Neurology, University of Chicago, Chicago, Illinois, USA.
⁵⁴ Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina; Argentine National Scientific and Technological Research Council (CONICET), Buenos Aires, Argentina.
⁵⁵ Department of Neurology, The University of Tokyo, Tokyo, Japan.
⁵⁶ 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.
⁵⁷ 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.
⁵⁸ 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.
⁵⁹ Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
⁶⁰ Behavioural Genetics Unit, Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
⁶¹ Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
⁶² Department of Neurology, Medical University in Warsaw, Warsaw, Poland.
⁶³ Department of Neurology, School of Medicine, Koç University, Istanbul, Turkey.
⁶⁴ Department of Neurology, University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, İstanbul, Turkey.
⁶⁵ Hospital Israelita Albert Einstein, São Paulo, Brazil; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
⁶⁶ DST/NWU Preclinical Drug Development Platform, North-West University, Potchefstroom, North-West, South Africa.
⁶⁷ Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
⁶⁸ Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁶⁹ Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.
⁷⁰ 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.
⁷¹ Department of Neurology, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
⁷² Pacific Parkinson's Research Centre, Division of Neurology, Department of Medicine, Vancouver, British Columbia, Canada.
⁷³ Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Toronto, Ontario, Canada.
⁷⁴ Department of Neurology, Pavol Jozef Šafárik University in Košice, Košice, Slovakia; Department of Neurology, University Hospital L. Pasteur, Kosice, Slovakia.
⁷⁵ Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
⁷⁶ 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.
⁷⁷ Neurology Department, Ninewells Hospital and Medical School, Dundee, United Kingdom; MRC Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK.
⁷⁸ Behavioral and Movement Disorders Section, Ribeirão Preto Medical School, University of São Paulo, Brazil.
⁷⁹ Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
⁸⁰ Department of Neurology, Centre Hospitalier Universitaire (CHU) de Liège, Liège, Belgium; MoVeRe Group, GIGA-CRC In Vivo Imaging, University of Liege, Liège, Belgium.
⁸¹ Medical Genetic Center, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
⁸² Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea; Department of Neurology, Yongin Severance Hospital, Yonsei University Health System, Yongin, South Korea.
⁸³ 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.
⁸⁴ 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.
⁸⁵ Department of Neurology, National Neuroscience Institute, Duke NUS Medical School, Singapore General Hospital, Singapore, Singapore.
⁸⁶ 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.
⁸⁷ Department of Neurology, University of Szeged, Szeged, Hungary.
⁸⁸ Department for Neurodegeneration, Clinic for Neurology CCS, Belgrade, Serbia.
⁸⁹ Department of Neurology, Hadassah Medical Center and the Hebrew University, Jerusalem, Israel.
⁹⁰ Neurocenter, Turku University Hospital, Turku, Finland; Clinical Neurosciences, Faculty of Medicine, University of Turku, Turku, Finland.
⁹¹ Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
⁹² Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.
⁹³ Department of Neurology, Milan Center for Neuroscience, University of Milano-Bicocca/San Gerardo Hospital, Monza, Italy.
⁹⁴ Neurology Service, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
⁹⁵ Department of Medicine, Medical Genetics and Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
⁹⁶ Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
⁹⁷ Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
⁹⁸ Movement Disorder Paracelsus-Elena-Klinik, Kassel, Germany; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.
⁹⁹ Movement Disorders, Department of Neurology, Instituto de Neurosciencias Buenos Aires, Buenos Aires, Argentina.
¹⁰⁰ 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.
¹⁰¹ Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
¹⁰² Department of Neurology, St. Olavs Hospital, Trondheim, Norway.
¹⁰³ Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.
¹⁰⁴ Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway.
¹⁰⁵ 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.
¹⁰⁶ Fixel Institute, Department of Neurology, University of Florida, Gainesville, Florida, USA.
¹⁰⁷ Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Neurology, Paris, France.

PMID: 36692014
DOI: 10.1002/mds.29288

Free article

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Eva-Juliane Vollstedt et al. Mov Disord. 2023 Feb.

Free article

. 2023 Feb;38(2):286-303.

doi: 10.1002/mds.29288. Epub 2023 Jan 24.

Authors

Collaborators

MJFF Global Genetic Parkinson's Disease Study Group:
Anna Aasly, Jan O Aasly, Natalya Y Abramycheva, Azlina Ahmad-Annuar, Alberto Albanese, Roy N Alcalay, Amaal Aldakheel, Thamer Alkhairallah, Bashayer Al-Mubarak, Nada Al-Tassan, Victoria Alvarez, Paolo Amami, Grazia Annesi, Silke Appel-Cresswell, Marco Antonio Araujo Leite, David Arkadir, Micol Avenali, Henrique Ballalai Ferraz, Soraya Bardien, Melinda Barkhuizen, Matthew J Barrett, A Nazlı Başak, Daniela Berg, Basar Bilgic, Bastiaan R Bloem, Vincenzo Bonifati, Agnita J W Boon, Vanderci Borges, Friederike Borngräber, Max Borsche, Maria Bozi, Susan Bressman, Alexis Brice, Laura Brighina, Kathrin Brockmann, Norbert Brüggemann, Marta Camacho, Andrea Carmine Belin, Jonathan Carr, Martin Emiliano Cesarini, Mario Cornejo-Olivas, Bruce Chase, Sun Ju Chung, Leonor Correia Guedes, Jordi Clarimon, Lorraine Clark, Jean-Christophe Corvol, David Crosiers, Parimal Das, Patricia de Carvalho Aguiar, Joana Damásio, Giuseppe de Michele, Anna De Rosa, Elena Dieguez, Jolanta Dorszewska, Sibel Ertan, Stanley Fahn, Matthew J Farrer, Ekaterina Y Fedotova, Rosangela Ferese, Joaquim J Ferreira, Tatiana Foroud, Manabu Funayama, Victor S C Fung, Monica Gagliardi, Stefano Gambardella, Gaetan Garraux, Alicia Garrido, Emilia M Gatto, Gençer Genç, Nir Giladi, Pilar Gómez-Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycel Hentati, Jens Michael Hertz, Sergey N Illarioshkin, Joseph Jankovic, Cristina Januario, Silvia Jesús Maestre, Valtteri Kaasinen, Meike Kasten, Hiroshi Kataoka, Anneke A Kievit, Yun Joong Kim, Christine Klein, Péter Klivényi, Vladimir S Kostic, Dariusz Koziorowski, Rejko Krüger, Andrea A Kühn, Gregor Kuhlenbäumer, Ming-Che Kuo, Anthony E Lang, Guey-Jen Lee-Chen, Suzanne Lesage, Jia Lun Lim, Shen-Yang Lim, Chin-Hsien Lin, Katja Lohmann, Timothy Lynch, Karen Marder, Katerina Markopoulou, Mika Martikainen, Patrick May, Allan McCarthy, George D Mellick, Manuel Menéndez-González, Marcelo Merello, Pablo Mir, Anat Mirelman, Brit Mollenhauer, Hugo Morales Briceno, Ana Morgadinho, Huw Morris, Alexandra Mosejova, Kenya Nishioka, Özgür Öztop Çakmak, Diana A Olszewska, Avi Orr-Urtreger, Sinthuja Pachchek, Shalini Padmanabhan, Maria Teresa Periñán, Simona Petrucci, Marcia M G Pimentel, Radha Procopio, Teeratorn Pulkes, Andreas Puschmann, Caroline Ran, Olaf Riess, Owen A Ross, Malco Rossi, Javier Ruiz-Martinez, Esther M Sammler, João Santos Pereira, Wataru Satake, Rachel Saunders-Pullman, Susen Schaake, Maria Skaalum Petersen, Matej Skorvanek, Leonidas Stefanis, Alexandra I Soto-Beasley, Mário Sousa, Mariana Spitz, Oksana Suchowersky, Carolyn M Sue, Ai Huey Tan, Eng-King Tan, Avner Thaler, Fatih Tepgeç, Pichet Termsarasab, Christelle Tesson, Tatsushi Toda, Mathias Toft, Eduardo Tolosa, Luis Torres-Ramirez, Vitor Tumas, Oya Uyguner, Enza Maria Valente, Bart van de Warrenburg, Marie Vidailhet, Eva-Juliane Vollstedt, Ronald L Walton, Cheryl Waters, Caroline H Williams-Gray, Juliane Winkelmann, Yih-Ru Wu, Isabel Wurster, Zbigniew K Wszolek, Ruey-Meei Wu, Bao-Rong Zhang, Alexander Zimprich

Affiliations

¹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
² Research Programs, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA.
³ Department of Neurology, Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.
⁴ Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.
⁵ 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.
⁶ Mongi Ben Hmida National Institute of Neurology, Tunis, Tunisia.
⁷ 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.
⁸ Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel.
⁹ Department of Neurology, Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA.
¹⁰ Department of Neurology, Columbia University, New York, New York, USA.
¹¹ Department of Psychiatry and Psychotherapy and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
¹² Department of Neurology and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
¹³ Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
¹⁴ 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.
¹⁵ Institute of Biomedical Research and Innovation, National Research Council, Cosenza, Italy.
¹⁶ 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.
¹⁷ First Department of Neurology, Medical School of the National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.
¹⁸ 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.
¹⁹ 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.
²⁰ Neurorehabilitation Unit, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
²¹ Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy; Sant' Andrea University Hospital, Rome, Italy.
²² 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.
²³ Department of Neurogenetics, Research Center of Neurology, Moscow, Russia.
²⁴ Laboratório de Genética, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.
²⁵ Servicio Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain; Instituto de Investigación; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.
²⁶ 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.
²⁷ Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
²⁸ Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Neurology, National Taiwan University College of Medicine, Taipei, Taiwan.
²⁹ 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.
³⁰ Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
³¹ Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
³² Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
³³ Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan.
³⁴ Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Bunkyo, Tokyo, Japan.
³⁵ 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.
³⁶ Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
³⁷ Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru; Center for Global Health, Universidad Peruana Cayetano Heredia, Lima, Peru.
³⁸ Movement Disorders Unit, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.
³⁹ Department of Neurology, Chang Gung University, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.
⁴⁰ Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.
⁴¹ Movement Disorders Clinic, Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
⁴² Division of Neurology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
⁴³ Department of Neurology, Christian-Albrechts-Universität, Kiel, Germany.
⁴⁴ Movement Disorder and Neuromodulation Unit, Charité, Universitätsmedizin Berlin, Department of Neurology, Berlin, Germany.
⁴⁵ Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
⁴⁶ Department of Neurology, Medical University, Vienna, Austria.
⁴⁷ Department of Neurology, Clinical Sciences, Lund University, Lund, Sweden; Department of Neurology, Skåne University, Lund, Sweden.
⁴⁸ Griffith Institute for Drug Discovery (GRIDD), School of Environment and Science, Griffith University, Brisbane, Queensland, Australia.
⁴⁹ Laboratory of Neurobiology, Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.
⁵⁰ Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
⁵¹ IRCCS Neuromed, Localita' Camerelle, Pozzilli, Isernia, Italy; Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy.
⁵² Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA.
⁵³ Department of Neurology, NorthShore University HealthSystem, Evanston Illinois and Department of Neurology, University of Chicago, Chicago, Illinois, USA.
⁵⁴ Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina; Argentine National Scientific and Technological Research Council (CONICET), Buenos Aires, Argentina.
⁵⁵ Department of Neurology, The University of Tokyo, Tokyo, Japan.
⁵⁶ 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.
⁵⁷ 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.
⁵⁸ 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.
⁵⁹ Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
⁶⁰ Behavioural Genetics Unit, Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
⁶¹ Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
⁶² Department of Neurology, Medical University in Warsaw, Warsaw, Poland.
⁶³ Department of Neurology, School of Medicine, Koç University, Istanbul, Turkey.
⁶⁴ Department of Neurology, University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, İstanbul, Turkey.
⁶⁵ Hospital Israelita Albert Einstein, São Paulo, Brazil; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
⁶⁶ DST/NWU Preclinical Drug Development Platform, North-West University, Potchefstroom, North-West, South Africa.
⁶⁷ Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
⁶⁸ Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
⁶⁹ Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.
⁷⁰ 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.
⁷¹ Department of Neurology, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
⁷² Pacific Parkinson's Research Centre, Division of Neurology, Department of Medicine, Vancouver, British Columbia, Canada.
⁷³ Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Toronto, Ontario, Canada.
⁷⁴ Department of Neurology, Pavol Jozef Šafárik University in Košice, Košice, Slovakia; Department of Neurology, University Hospital L. Pasteur, Kosice, Slovakia.
⁷⁵ Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
⁷⁶ 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.
⁷⁷ Neurology Department, Ninewells Hospital and Medical School, Dundee, United Kingdom; MRC Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK.
⁷⁸ Behavioral and Movement Disorders Section, Ribeirão Preto Medical School, University of São Paulo, Brazil.
⁷⁹ Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
⁸⁰ Department of Neurology, Centre Hospitalier Universitaire (CHU) de Liège, Liège, Belgium; MoVeRe Group, GIGA-CRC In Vivo Imaging, University of Liege, Liège, Belgium.
⁸¹ Medical Genetic Center, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
⁸² Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea; Department of Neurology, Yongin Severance Hospital, Yonsei University Health System, Yongin, South Korea.
⁸³ 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.
⁸⁴ 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.
⁸⁵ Department of Neurology, National Neuroscience Institute, Duke NUS Medical School, Singapore General Hospital, Singapore, Singapore.
⁸⁶ 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.
⁸⁷ Department of Neurology, University of Szeged, Szeged, Hungary.
⁸⁸ Department for Neurodegeneration, Clinic for Neurology CCS, Belgrade, Serbia.
⁸⁹ Department of Neurology, Hadassah Medical Center and the Hebrew University, Jerusalem, Israel.
⁹⁰ Neurocenter, Turku University Hospital, Turku, Finland; Clinical Neurosciences, Faculty of Medicine, University of Turku, Turku, Finland.
⁹¹ Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
⁹² Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.
⁹³ Department of Neurology, Milan Center for Neuroscience, University of Milano-Bicocca/San Gerardo Hospital, Monza, Italy.
⁹⁴ Neurology Service, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
⁹⁵ Department of Medicine, Medical Genetics and Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
⁹⁶ Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
⁹⁷ Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
⁹⁸ Movement Disorder Paracelsus-Elena-Klinik, Kassel, Germany; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.
⁹⁹ Movement Disorders, Department of Neurology, Instituto de Neurosciencias Buenos Aires, Buenos Aires, Argentina.
¹⁰⁰ 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.
¹⁰¹ Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
¹⁰² Department of Neurology, St. Olavs Hospital, Trondheim, Norway.
¹⁰³ Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.
¹⁰⁴ Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway.
¹⁰⁵ 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.
¹⁰⁶ Fixel Institute, Department of Neurology, University of Florida, Gainesville, Florida, USA.
¹⁰⁷ Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Neurology, Paris, France.

PMID: 36692014
DOI: 10.1002/mds.29288

Abstract

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. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keywords: Parkinson's disease; monogenic PD.

PubMed Disclaimer

References

1. Domingo A, Klein C. Genetics of Parkinson disease. 2018. p. 211-27.
1. 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.
1. 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.
1. Prasuhn J, Brüggemann N. Genotype-driven therapeutic developments in Parkinson's disease. Mol Med (Cambridge, MA) 2021;27(1):42.
1. 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.

Publication types

Actions

MeSH terms

Actions
Actions
Actions

Grants and funding

LinkOut - more resources

Full Text Sources
Medical
- MedlinePlus Health Information
Research Materials
- NCI CPTC Antibody Characterization Program
Miscellaneous
- NCI CPTAC Assay Portal

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Collaborators

Affiliations

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Authors

Collaborators

Affiliations

Abstract

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Miscellaneous