Title : Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort Language : English Author, co-author : Vollstedt, Eva-Juliane [> >] Schaake, Susen [> >] Lohmann, Katja [> >] Padmanabhan, Shalini [> >] Brice, Alexis [> >] Lesage, Suzanne [> >] Tesson, Christelle [> >] Vidailhet, Marie [> >] Wurster, Isabel [> >] Hentati, Faycel [> >] Mirelman, Anat [> >] Giladi, Nir [> >] Karen, Marder [> >] Waters, Cheryl [> >] Fahn, Stanley [> >] Kasten, Meike [> >] Brüggemann, Norbert [> >] Borsche, Max [> >] Foroud, Tatiana [> >] Tolosa, Eduardo [> >] Garrido, Alicia [> >] Annesi, Grazia [> >] Gagliardi, Monica [> >] Bozi, Maria [> >] Stefanis, Leonidas [> >] Ferreira, Joaquim J. [> >] Correia Guedes, Leonor [> >] Avenali, Micol [> >] Petrucci, Simona [> >] Clark, Lorraine [> >] Fedotova, Ekaterina Y. [> >] Abramycheva, Natalya Y. [> >] Alvarez, Victoria [> >] Menéndez-González, Manuel [> >] Jesús Maestre, Silvia [> >] Gómez-Garre, Pilar [> >] Mir, Pablo [> >] Belin, Andrea Carmine [> >] Ran, Caroline [> >] Lin, Chin-Hsien [> >] Kuo, Ming-Che [> >] Crosiers, David [> >] Wszolek, Zbigniew K. [> >] Ross, Owen A. [> >] Jankovic, Joseph [> >] Nishioka, Kenya [> >] Funayama, Manabu [> >] Clarimon, Jordi [> >] Williams-Gray, Caroline H. [> >] Camacho, Marta [> >] Cornejo-Olivas, Mario [> >] Torres-Ramirez, Luis [> >] Wu, Yih-Ru [> >] Lee-Chen, Guey-Jen [> >] Morgadinho, Ana [> >] Pulkes, Teeratorn [> >] Termsarasab, Pichet [> >] Berg, Daniela [> >] Gregor, Kuhlenbäumer [> >] Kühn, Andrea A. [> >] Borngräber, Friederike [> >] de Michele, Giuseppe [> >] De Rosa, Anna [> >] Zimprich, Alexander [> >] Puschmann, Andreas [> >] Mellick, George D. [> >] Jolanta, Dorszewska [> >] Carr, Jonathan [> >] Ferese, Rosangela [> >] Stefano, Gambardella [> >] Chase, Bruce [> >] Markopoulou, Katerina [> >] Wataru, Satake [> >] Toda, Tatsushi [> >] Rossi, Malco [> >] Merello, Marcelo [> >] Lynch, Timothy [> >] Olszewska, Diana A. [> >] Lim, Shen-Yang [> >] Ahmad-Annuar, Azlina [> >] Tan, Ai Huey [> >] Al-Mubarak, Bashayer [> >] Hanagasi, Hasmet [> >] Koziorowski, Dariusz [> >] Ertan, Sibel [> >] Gen c, Gen Cer [> >] de Carvalho Aguiar, Patricia [> >] Barkhuizen, Melinda [> >] Pimentel, Marcia M. G. [> >] Saunders-Pullman, Rachel [> >] van de Warrenburg, Bart [> >] Bressman, Susan [> >] Toft, Mathias [> >] Appel-Cresswell, Silke [> >] Lang, Anthony E. [> >] Skorvanek, Matej [> >] Boon, Agnita J. W. [> >] Krüger, Rejko [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience] Sammler, Esther M. [> >] Tumas, Vitor [> >] Zhang, Bao-Rong [> >] Garraux, Gaetan [> >] Chung, Sun Ju [> >] Joong, Kim Yun [> >] Winkelmann, Juliane [> >] Sue, Carolyn M. [> >] Eng-King, Tan [> >] Damásio, Joana [> >] Klivényi, Péter [> >] Kostic, Vladimir S. [> >] Arkadir, David [> >] Martikainen, Mika [> >] Borges, Vanderci [> >] Hertz, Jens Michael [> >] Brighina, Laura [> >] Spitz, Mariana [> >] Suchowersky, Oksana [> >] Riess, Olaf [> >] Parimal, Das [> >] Mollenhauer, Brit [> >] Gatto, Emilia M. [> >] Skaalum, Petersen Maria [> >] Wu, Ruey-Meei [> >] Illarioshkin, Sergey N. [> >] Valente, Enza Maria [> >] Aasly, Jan O. [> >] Aasly, Anna [> >] N, Alcalay Roy [> >] Thaler, Avner [> >] Farrer, Matthew J. [> >] Kathrin, Brockmann [> >] Corvol, Jean-Christophe [> >] Klein, Christine [> >] Aasly, Anna [> >] Aasly, Jan O. [> >] Abramycheva, Natalya Y. [> >] Ahmad-Annuar, Azlina [> >] Albanese, Alberto [> >] Alcalay, Roy N. [> >] Aldakheel, Amaal [> >] Alkhairallah, Thamer [> >] Bashayer, Al-Mubarak [> >] Al-Tassan, Nada [> >] Alvarez, Victoria [> >] Paolo, Amami [> >] Annesi, Grazia [> >] Appel-Cresswell, Silke [> >] Araujo, Leite Marco Antonio [> >] Arkadir, David [> >] Avenali, Micol [> >] Ferraz, Henrique Ballalai [> >] Bardien, Soraya [> >] Melinda, Barkhuizen [> >] Barrett, Matthew J. [> >] Ba sak, A. Nazl I [> >] Berg, Daniela [> >] Bilgic, Basar [> >] Bloem, Bastiaan R. [> >] Bonifati, Vincenzo [> >] Boon, Agnita J. W. [> >] Borges, Vanderci [> >] Borngräber, Friederike [> >] Borsche, Max [> >] Bozi, Maria [> >] Bressman, Susan [> >] Brice, Alexis [> >] Brighina, Laura [> >] Brockmann, Kathrin [> >] Brüggemann, Norbert [> >] Camacho, Marta [> >] Belin, Andrea Carmine [> >] Carr, Jonathan [> >] Cesarini, Martin Emiliano [> >] Cornejo-Olivas, Mario [> >] Chase, Bruce [> >] Ju, Chung Sun [> >] Guedes, Leonor Correia [> >] Clarimon, Jordi [> >] Lorraine, Clark [> >] Corvol, Jean-Christophe [> >] Crosiers, David [> >] Parimal, Das [> >] de Carvalho Aguiar, Patricia [> >] Damásio, Joana [> >] de Michele, Giuseppe [> >] De Rosa, Anna [> >] Dieguez, Elena [> >] Dorszewska, Jolanta [> >] Ertan, Sibel [> >] Fahn, Stanley [> >] Farrer, Matthew J. [> >] Fedotova, Ekaterina Y. [> >] Ferese, Rosangela [> >] Ferreira, Joaquim J. [> >] Foroud, Tatiana [> >] Funayama, Manabu [> >] Fung, Victor S. C. [> >] Gagliardi, Monica [> >] Stefano, Gambardella [> >] Garraux, Gaetan [> >] Garrido, Alicia [> >] Gatto, Emilia M. [> >] Gen c, Gen Cer [> >] Giladi, Nir [> >] Pilar, Gómez-Garre [> >] Hanagasi, Hasmet [> >] Hattori, Nobutaka [> >] Faycel, Hentati [> >] Hertz, Jens Michael [> >] Illarioshkin, Sergey N. [> >] Jankovic, Joseph [> >] Januario, Cristina [> >] Maestre, Silvia Jesús [> >] Kaasinen, Valtteri [> >] Kasten, Meike [> >] Hiroshi, Kataoka [> >] Kievit, Anneke A. [> >] Kim, Yun Joong [> >] Christine, Klein [> >] Klivényi, Péter [> >] Kostic, Vladimir S. [> >] Koziorowski, Dariusz [> >] Krüger, Rejko [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience] Kühn, Andrea A. [> >] Kuhlenbäumer, Gregor [> >] Kuo, Ming-Che [> >] Lang, Anthony E. [> >] Lee-Chen, Guey-Jen [> >] Lesage, Suzanne [> >] Lim, Jia Lun [> >] Lim, Shen-Yang [> >] Lin, Chin-Hsien [> >] Lohmann, Katja [> >] Timothy, Lynch [> >] Marder, Karen [> >] Markopoulou, Katerina [> >] Martikainen, Mika [> >] May, Patrick [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core] McCarthy, Allan [> >] Mellick, George D. [> >] Menéndez-González, Manuel [> >] Merello, Marcelo [> >] Mir, Pablo [> >] Mirelman, Anat [> >] Mollenhauer, Brit [> >] Briceno, Hugo Morales [> >] Morgadinho, Ana [> >] Morris, Huw [> >] Mosejova, Alexandra [> >] Nishioka, Kenya [> >] Cakmak, Özgür Öztop [> >] Olszewska, Diana A. [> >] Orr-Urtreger, Avi [> >] Pachchek, Sinthuja [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience] Padmanabhan, Shalini [> >] Periñ\'an, Maria Teresa [> >] Petrucci, Simona [> >] Pimentel, Marcia M. G. [> >] Procopio, Radha [> >] Pulkes, Teeratorn [> >] Puschmann, Andreas [> >] Ran, Caroline [> >] Riess, Olaf [> >] Ross, Owen A. [> >] Rossi, Malco [> >] Ruiz-Martinez, Javier [> >] Sammler, Esther M. [> >] Pereira, João Santos [> >] Satake, Wataru [> >] Saunders-Pullman, Rachel [> >] Schaake, Susen [> >] Skaalum, Petersen Maria [> >] Skorvanek, Matej [> >] Stefanis, Leonidas [> >] Soto-Beasley, Alexandra I. [> >] Sousa, Mário [> >] Spitz, Mariana [> >] Suchowersky, Oksana [> >] Sue, Carolyn M. [> >] Tan, Ai Huey [> >] Tan, Eng-King [> >] Thaler, Avner [> >] Tepge c, Fatih [> >] Termsarasab, Pichet [> >] Tesson, Christelle [> >] Toda, Tatsushi [> >] Toft, Mathias [> >] Tolosa, Eduardo [> >] Torres-Ramirez, Luis [> >] Tumas, Vitor [> >] Uyguner, Oya [> >] Valente, Enza Maria [> >] van de Warrenburg, Bart [> >] Vidailhet, Marie [> >] Vollstedt, Eva-Juliane [> >] Walton, Ronald L. [> >] Waters, Cheryl [> >] H, Williams-Gray Caroline [> >] Winkelmann, Juliane [> >] Wu, Yih-Ru [> >] Isabel, Wurster [> >] Wszolek, Zbigniew K. [> >] Wu, Ruey-Meei [> >] Bao-Rong, Zhang [> >] Zimprich, Alexander [> >] Publication date : 24-Jan-2023 Journal title : Movement Disorders Publisher : John Wiley & Sons Volume : 38 Issue/season : 2 Pages : 286--303 Peer reviewed : Yes Audience : International ISSN : 0885-3185 e-ISSN : 1531-8257 City : Hoboken Country : United States - New York Keywords : [en] Parkinson's disease; monogenic PDAbstract : [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. 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.Research centres : Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) ; Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) Funders : Fonds National de la Recherche - FnR ; MJFF ; H2020 (Orchestra) Target : Researchers ; Professionals ; Students Permalink : http://hdl.handle.net/10993/55245 DOI : 10.1002/mds.29288 Other URL : https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29288 Framework Programme / European Project : H2020 ; 645360 - ORCHESTRA - Optical peRformanCe monitoring enabling dynamic networks using a Holistic cross-layEr, Self-configurable Truly flexible appRoAch FnR project : FnR ; FNR11264123 > Rejko Krüger > NCER-PD > Ncer-pd > 01/01/2015 > 30/11/2020 > 2015 
[University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience]
