Article (Scientific journals)
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Vollstedt, Eva-Juliane; Schaake, Susen; Lohmann, Katja et al.
2023In Movement Disorders, 38 (2), p. 286--303
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Keywords :
Parkinson's disease; monogenic PD
Abstract :
[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 center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Disciplines :
Neurology
Genetics & genetic processes
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
More authors (295 more) Less
External co-authors :
yes
Language :
English
Title :
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Publication date :
24 January 2023
Journal title :
Movement Disorders
ISSN :
1531-8257
Publisher :
John Wiley & Sons, Hoboken, United States - New York
Volume :
38
Issue :
2
Pages :
286--303
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
European Projects :
H2020 - 645360 - ORCHESTRA - Optical peRformanCe monitoring enabling dynamic networks using a Holistic cross-layEr, Self-configurable Truly flexible appRoAch
FnR Project :
FNR11264123 - Ncer-pd, 2015 (01/01/2015-30/11/2020) - Rejko Krüger
Funders :
FNR - Fonds National de la Recherche [LU]
MJFF - Michael J. Fox Foundation for Parkinson's Research [US-NY]
H2020 (Orchestra)
CE - Commission Européenne [BE]
Available on ORBilu :
since 30 May 2023

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