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

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dc.contributor.author Vollstedt, Eva-Juliane
dc.contributor.author Schaake, Susen
dc.contributor.author Lohmann, Katja
dc.contributor.author Padmanabhan, Shalini
dc.contributor.author Brice, Alexis
dc.contributor.author Lesage, Suzanne
dc.contributor.author Tesson, Christelle
dc.contributor.author Vidailhet, Marie
dc.contributor.author Wurster, Isabel
dc.contributor.author Hentati, Faycel
dc.contributor.author Mirelman, Anat
dc.contributor.author Giladi, Nir
dc.contributor.author Marder, Karen
dc.contributor.author Waters, Cheryl
dc.contributor.author Fahn, Stanley
dc.contributor.author Kasten, Meike
dc.contributor.author Bruggemann, Norbert
dc.contributor.author Borsche, Max
dc.contributor.author Foroud, Tatiana
dc.contributor.author Tolosa, Eduardo
dc.contributor.author Garrido, Alicia
dc.contributor.author Annesi, Grazia
dc.contributor.author Gagliardi, Monica
dc.contributor.author Bozi, Maria
dc.contributor.author Stefanis, Leonidas
dc.contributor.author Ferreira, Joaquim J
dc.contributor.author Correia Guedes, Leonor
dc.contributor.author Avenali, Micol
dc.contributor.author Petrucci, Simona
dc.contributor.author Clark, Lorraine
dc.contributor.author Fedotova, Ekaterina Y
dc.contributor.author Abramycheva, Natalya Y
dc.contributor.author Alvarez, Victoria
dc.contributor.author Menéndez-González, Manuel
dc.contributor.author Jesús Maestre, Silvia
dc.contributor.author Gómez-Garre, Pilar
dc.contributor.author Mir, Pablo
dc.contributor.author Belin, Andrea Carmine
dc.contributor.author Ran, Caroline
dc.contributor.author Lin, Chin-Hsien
dc.contributor.author Kuo, Ming-Che
dc.contributor.author Crosiers, David
dc.contributor.author Wszolek, Zbigniew K
dc.contributor.author Ross, Owen A
dc.contributor.author Jankovic, Joseph
dc.contributor.author Nishioka, Kenya
dc.contributor.author Funayama, Manabu
dc.contributor.author Clarimon, Jordi
dc.contributor.author Williams-Gray, Caroline H
dc.contributor.author Camacho, Marta
dc.contributor.author Cornejo Olivas, Mario Reynaldo
dc.contributor.author Torres-Ramirez, Luis
dc.contributor.author Wu, Yih-Ru
dc.contributor.author Lee-Chen, Guey-Jen
dc.contributor.author Morgadinho, Ana
dc.contributor.author Pulkes, Teeratorn
dc.contributor.author Termsarasab, Pichet
dc.contributor.author Berg, Daniela
dc.contributor.author Kuhlenbäumer, Gregor
dc.contributor.author Kühn, Andrea A
dc.contributor.author Borngräber, Friederike
dc.contributor.author de Michele, Giuseppe
dc.contributor.author De Rosa, Anna
dc.contributor.author Zimprich, Alexander
dc.contributor.author Puschmann, Andreas
dc.contributor.author Mellick, George D
dc.contributor.author Dorszewska, Jolanta
dc.contributor.author Carr, Jonathan
dc.contributor.author Ferese, Rosangela
dc.contributor.author Gambardella, Stefano
dc.contributor.author Chase, Bruce
dc.contributor.author Markopoulou, Katerina
dc.contributor.author Satake, Wataru
dc.contributor.author Toda, Tatsushi
dc.contributor.author Rossi, Malco
dc.contributor.author Merello, Marcelo
dc.contributor.author Lynch, Timothy
dc.contributor.author Olszewska, Diana A
dc.contributor.author Lim, Shen-Yang
dc.contributor.author Ahmad-Annuar, Azlina
dc.contributor.author Tan, Ai Huey
dc.contributor.author Al-Mubarak, Bashayer
dc.contributor.author Hanagasi, Hasmet
dc.contributor.author Koziorowski, Dariusz
dc.contributor.author Ertan, Sibel
dc.contributor.author Genç, Gencer
dc.contributor.author de Carvalho Aguiar, Patricia
dc.contributor.author Barkhuizen, Melinda
dc.contributor.author Pimentel, Marcia M G
dc.contributor.author Saunders-Pullman, Rachel
dc.contributor.author van de Warrenburg, Bart
dc.contributor.author Bressman, Susan
dc.contributor.author Toft, Mathias
dc.contributor.author Appel-Cresswell, Silke
dc.contributor.author Lang, Anthony E
dc.contributor.author Skorvanek, Matej
dc.contributor.author Boon, Agnita J W
dc.contributor.author Krüger, Rejko
dc.contributor.author Sammler, Esther M
dc.contributor.author Tumas, Vitor
dc.contributor.author Zhang, Bao-Rong
dc.contributor.author Garraux, Gaetan
dc.contributor.author Chung, Sun Ju
dc.contributor.author Kim, Yun Joong
dc.contributor.author Winkelmann, Juliane
dc.contributor.author Sue, Carolyn M
dc.contributor.author Tan, Eng-King
dc.contributor.author Damasio, Joana
dc.contributor.author Klivenyi, Peter
dc.contributor.author Kostic, Vladimir S
dc.contributor.author Arkadir, David
dc.contributor.author Martikainen, Mika
dc.contributor.author Borges, Vanderci
dc.contributor.author Hertz, Jens Michael
dc.contributor.author Brighina, Laura
dc.contributor.author Spitz, Mariana
dc.contributor.author Suchowersky, Oksana
dc.contributor.author Riess, Olaf
dc.contributor.author Das, Parimal
dc.contributor.author Mollenhauer, Brit
dc.contributor.author Gatto, Emilia M
dc.contributor.author Petersen, Maria Skaalum
dc.contributor.author Hattori, Nobutaka
dc.contributor.author Wu, Ruey-Meei
dc.contributor.author Illarioshkin, Sergey N
dc.contributor.author Valente, Enza Maria
dc.contributor.author Aasly, Jan O
dc.contributor.author Aasly, Anna
dc.contributor.author Alcalay, Roy N
dc.contributor.author Thaler, Avner
dc.contributor.author Farrer, Matthew J
dc.contributor.author Brockmann, Kathrin
dc.contributor.author Corvol, Jean-Christophe
dc.contributor.author Klein, Christine
dc.date.accessioned 2023-02-20T13:28:10Z
dc.date.available 2023-02-20T13:28:10Z
dc.date.issued 2023
dc.identifier.uri https://hdl.handle.net/20.500.12866/13153
dc.description.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. en_US
dc.language.iso eng
dc.publisher Wiley
dc.relation.ispartofseries Movement disorders
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Parkinson's disease en_US
dc.subject monogenic PD en_US
dc.subject.mesh Parkinson Disease
dc.title Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1002/mds.29288
dc.relation.issn 1531-8257


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