Embracing monogenic Parkinson's disease: The MJFF Global Genetic PD Cohort
dc.date.accessioned | 2024-01-21T16:18:09Z | |
dc.date.available | 2024-01-21T16:18:09Z | |
dc.date.created | 2023-02-28T12:20:57Z | |
dc.date.issued | 2023 | |
dc.identifier.citation | 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 Marder, Karen 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 Kuhlenbäumer, Gregor Kühn, Andrea A. Borngräber, Friederike de Michele, Giuseppe De Rosa, Anna Zimprich, Alexander Puschmann, Andreas Mellick, George D. Dorszewska, Jolanta Carr, Jonathan Ferese, Rosangela Gambardella, Stefano Chase, Bruce Markopoulou, Katerina Satake, Wataru 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 Genç, Gençer 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 Sammler, Esther M. Tumas, Vitor Zhang, Bao-rong Garraux, Gaetan Chung, Sun Ju Kim, Yun Joong Winkelmann, Juliane Sue, Carolyn M. Tan, Eng-King Damásio, Joana Klivényi, Péter Kostic, Vladimir S. Arkadir, David Martikainen, Mika Borges, Vanderci Hertz, Jens Michael Brighina, Laura Spitz, Mariana Suchowersky, Oksana Riess, Olaf Das, Parimal Mollenhauer, Brit Gatto, Emilia M. Petersen, Maria Skaalum Hattori, Nobutaka Wu, Ruey-Meei Illarioshkin, Sergey N. Valente, Enza Maria Aasly, Jan Aasly, Anna Alcalay, Roy N. Thaler, Avner Farrer, Matthew J. Brockmann, Kathrin Corvol, Jean-Christophe Klein, Christine . Embracing monogenic Parkinson's disease: The MJFF Global Genetic PD Cohort. Movement Disorders. 2023, 38(2), 286-303 | |
dc.identifier.uri | http://hdl.handle.net/10852/107128 | |
dc.description.abstract | 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. | |
dc.language | EN | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Embracing monogenic Parkinson's disease: The MJFF Global Genetic PD Cohort | |
dc.title.alternative | ENEngelskEnglishEmbracing monogenic Parkinson's disease: The MJFF Global Genetic PD Cohort | |
dc.type | Journal article | |
dc.creator.author | Vollstedt, Eva-Juliane | |
dc.creator.author | Schaake, Susen | |
dc.creator.author | Lohmann, Katja | |
dc.creator.author | Padmanabhan, Shalini | |
dc.creator.author | Brice, Alexis | |
dc.creator.author | Lesage, Suzanne | |
dc.creator.author | Tesson, Christelle | |
dc.creator.author | Vidailhet, Marie | |
dc.creator.author | Wurster, Isabel | |
dc.creator.author | Hentati, Faycel | |
dc.creator.author | Mirelman, Anat | |
dc.creator.author | Giladi, Nir | |
dc.creator.author | Marder, Karen | |
dc.creator.author | Waters, Cheryl | |
dc.creator.author | Fahn, Stanley | |
dc.creator.author | Kasten, Meike | |
dc.creator.author | Brüggemann, Norbert | |
dc.creator.author | Borsche, Max | |
dc.creator.author | Foroud, Tatiana | |
dc.creator.author | Tolosa, Eduardo | |
dc.creator.author | Garrido, Alicia | |
dc.creator.author | Annesi, Grazia | |
dc.creator.author | Gagliardi, Monica | |
dc.creator.author | Bozi, Maria | |
dc.creator.author | Stefanis, Leonidas | |
dc.creator.author | Ferreira, Joaquim J. | |
dc.creator.author | Correia Guedes, Leonor | |
dc.creator.author | Avenali, Micol | |
dc.creator.author | Petrucci, Simona | |
dc.creator.author | Clark, Lorraine | |
dc.creator.author | Fedotova, Ekaterina Y. | |
dc.creator.author | Abramycheva, Natalya Y. | |
dc.creator.author | Alvarez, Victoria | |
dc.creator.author | Menéndez-González, Manuel | |
dc.creator.author | Jesús Maestre, Silvia | |
dc.creator.author | Gómez-Garre, Pilar | |
dc.creator.author | Mir, Pablo | |
dc.creator.author | Belin, Andrea Carmine | |
dc.creator.author | Ran, Caroline | |
dc.creator.author | Lin, Chin-Hsien | |
dc.creator.author | Kuo, Ming-Che | |
dc.creator.author | Crosiers, David | |
dc.creator.author | Wszolek, Zbigniew K. | |
dc.creator.author | Ross, Owen A. | |
dc.creator.author | Jankovic, Joseph | |
dc.creator.author | Nishioka, Kenya | |
dc.creator.author | Funayama, Manabu | |
dc.creator.author | Clarimon, Jordi | |
dc.creator.author | Williams-Gray, Caroline H. | |
dc.creator.author | Camacho, Marta | |
dc.creator.author | Cornejo-Olivas, Mario | |
dc.creator.author | Torres-Ramirez, Luis | |
dc.creator.author | Wu, Yih-Ru | |
dc.creator.author | Lee-Chen, Guey-Jen | |
dc.creator.author | Morgadinho, Ana | |
dc.creator.author | Pulkes, Teeratorn | |
dc.creator.author | Termsarasab, Pichet | |
dc.creator.author | Berg, Daniela | |
dc.creator.author | Kuhlenbäumer, Gregor | |
dc.creator.author | Kühn, Andrea A. | |
dc.creator.author | Borngräber, Friederike | |
dc.creator.author | de Michele, Giuseppe | |
dc.creator.author | De Rosa, Anna | |
dc.creator.author | Zimprich, Alexander | |
dc.creator.author | Puschmann, Andreas | |
dc.creator.author | Mellick, George D. | |
dc.creator.author | Dorszewska, Jolanta | |
dc.creator.author | Carr, Jonathan | |
dc.creator.author | Ferese, Rosangela | |
dc.creator.author | Gambardella, Stefano | |
dc.creator.author | Chase, Bruce | |
dc.creator.author | Markopoulou, Katerina | |
dc.creator.author | Satake, Wataru | |
dc.creator.author | Toda, Tatsushi | |
dc.creator.author | Rossi, Malco | |
dc.creator.author | Merello, Marcelo | |
dc.creator.author | Lynch, Timothy | |
dc.creator.author | Olszewska, Diana A. | |
dc.creator.author | Lim, Shen-Yang | |
dc.creator.author | Ahmad-Annuar, Azlina | |
dc.creator.author | Tan, Ai Huey | |
dc.creator.author | Al-Mubarak, Bashayer | |
dc.creator.author | Hanagasi, Hasmet | |
dc.creator.author | Koziorowski, Dariusz | |
dc.creator.author | Ertan, Sibel | |
dc.creator.author | Genç, Gençer | |
dc.creator.author | de Carvalho Aguiar, Patricia | |
dc.creator.author | Barkhuizen, Melinda | |
dc.creator.author | Pimentel, Marcia M.G. | |
dc.creator.author | Saunders-Pullman, Rachel | |
dc.creator.author | van de Warrenburg, Bart | |
dc.creator.author | Bressman, Susan | |
dc.creator.author | Toft, Mathias | |
dc.creator.author | Appel-Cresswell, Silke | |
dc.creator.author | Lang, Anthony E. | |
dc.creator.author | Skorvanek, Matej | |
dc.creator.author | Boon, Agnita J.W. | |
dc.creator.author | Krüger, Rejko | |
dc.creator.author | Sammler, Esther M. | |
dc.creator.author | Tumas, Vitor | |
dc.creator.author | Zhang, Bao-rong | |
dc.creator.author | Garraux, Gaetan | |
dc.creator.author | Chung, Sun Ju | |
dc.creator.author | Kim, Yun Joong | |
dc.creator.author | Winkelmann, Juliane | |
dc.creator.author | Sue, Carolyn M. | |
dc.creator.author | Tan, Eng-King | |
dc.creator.author | Damásio, Joana | |
dc.creator.author | Klivényi, Péter | |
dc.creator.author | Kostic, Vladimir S. | |
dc.creator.author | Arkadir, David | |
dc.creator.author | Martikainen, Mika | |
dc.creator.author | Borges, Vanderci | |
dc.creator.author | Hertz, Jens Michael | |
dc.creator.author | Brighina, Laura | |
dc.creator.author | Spitz, Mariana | |
dc.creator.author | Suchowersky, Oksana | |
dc.creator.author | Riess, Olaf | |
dc.creator.author | Das, Parimal | |
dc.creator.author | Mollenhauer, Brit | |
dc.creator.author | Gatto, Emilia M. | |
dc.creator.author | Petersen, Maria Skaalum | |
dc.creator.author | Hattori, Nobutaka | |
dc.creator.author | Wu, Ruey-Meei | |
dc.creator.author | Illarioshkin, Sergey N. | |
dc.creator.author | Valente, Enza Maria | |
dc.creator.author | Aasly, Jan | |
dc.creator.author | Aasly, Anna | |
dc.creator.author | Alcalay, Roy N. | |
dc.creator.author | Thaler, Avner | |
dc.creator.author | Farrer, Matthew J. | |
dc.creator.author | Brockmann, Kathrin | |
dc.creator.author | Corvol, Jean-Christophe | |
dc.creator.author | Klein, Christine | |
cristin.unitcode | 185,53,42,13 | |
cristin.unitname | Nevrologisk avdeling | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 1 | |
dc.identifier.cristin | 2130049 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Movement Disorders&rft.volume=38&rft.spage=286&rft.date=2023 | |
dc.identifier.jtitle | Movement Disorders | |
dc.identifier.volume | 38 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 286 | |
dc.identifier.endpage | 303 | |
dc.identifier.doi | https://doi.org/10.1002/mds.29288 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 0885-3185 | |
dc.type.version | PublishedVersion |
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