Reference : Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Scientific journals : Article
Life sciences : Genetics & genetic processes
Human health sciences : Neurology
Systems Biomedicine
http://hdl.handle.net/10993/55245
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
English
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 mailto [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 mailto [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 mailto [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 mailto [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 [> >]
24-Jan-2023
Movement Disorders
John Wiley & Sons
38
2
286--303
Yes
International
0885-3185
1531-8257
Hoboken
United States - New York
[en] Parkinson's disease; monogenic PD
[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.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) ; Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Fonds National de la Recherche - FnR ; MJFF ; H2020 (Orchestra)
Researchers ; Professionals ; Students
http://hdl.handle.net/10993/55245
10.1002/mds.29288
https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29288
H2020 ; 645360 - ORCHESTRA - Optical peRformanCe monitoring enabling dynamic networks using a Holistic cross-layEr, Self-configurable Truly flexible appRoAch
FnR ; FNR11264123 > Rejko Krüger > NCER-PD > Ncer-pd > 01/01/2015 > 30/11/2020 > 2015

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