Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort
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Data de Publicação: | 2023 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10451/56042 |
Resumo: | © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
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Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD CohortParkinson's diseaseMonogenic PD© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.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.Michael J. Fox Foundation for Parkinson's Research. Grant Number: ID 15015.02. NIHR Cambridge Biomedical Research Centre. Grant Number: BRC-1215-20014WileyRepositório da Universidade de LisboaVollstedt, Eva‐JulianeSchaake, SusenLohmann, KatjaPadmanabhan, ShaliniBrice, AlexisLesage, SuzanneTesson, ChristelleVidailhet, MarieWurster, IsabelHentati, FaycelMirelman, AnatZhang, Bao‐rongGarraux, GaetanChung, Sun JuKim, Yun JoongWinkelmann, JulianeSue, Carolyn M.Tan, Eng‐KingDamásio, JoanaKlivényi, PéterKostic, Vladimir S.Giladi, NirArkadir, DavidMartikainen, MikaBorges, VanderciHertz, Jens MichaelBrighina, LauraSpitz, MarianaSuchowersky, OksanaRiess, OlafDas, ParimalMollenhauer, BritMarder, KarenGatto, Emilia M.Petersen, Maria SkaalumHattori, NobutakaWu, Ruey‐MeeiIllarioshkin, Sergey N.Valente, Enza MariaAasly, Jan O.Aasly, AnnaAlcalay, Roy N.Thaler, AvnerWaters, CherylFarrer, Matthew J.Brockmann, KathrinCorvol, Jean‐ChristopheKlein, ChristineFahn, StanleyKasten, MeikeBrüggemann, NorbertBorsche, MaxForoud, TatianaTolosa, EduardoGarrido, AliciaAnnesi, GraziaGagliardi, MonicaBozi, MariaStefanis, LeonidasFerreira, Joaquim JCorreia Guedes, LeonorAvenali, MicolPetrucci, SimonaClark, LorraineFedotova, Ekaterina Y.Abramycheva, Natalya Y.Alvarez, VictoriaMenéndez‐González, ManuelJesús Maestre, SilviaGómez‐Garre, PilarMir, PabloBelin, Andrea CarmineRan, CarolineLin, Chin‐HsienKuo, Ming‐CheCrosiers, DavidWszolek, Zbigniew K.Ross, Owen A.Jankovic, JosephNishioka, KenyaFunayama, ManabuClarimon, JordiWilliams‐Gray, Caroline H.Camacho, MartaCornejo‐Olivas, MarioTorres‐Ramirez, LuisWu, Yih‐RuLee‐Chen, Guey‐JenMorgadinho, AnaPulkes, TeeratornTermsarasab, PichetBerg, DanielaKuhlenbäumer, GregorKühn, Andrea A.Borngräber, Friederikede Michele, GiuseppeDe Rosa, AnnaZimprich, AlexanderPuschmann, AndreasMellick, George D.Dorszewska, JolantaCarr, JonathanFerese, RosangelaGambardella, StefanoChase, BruceMarkopoulou, KaterinaSatake, WataruToda, TatsushiRossi, MalcoMerello, MarceloLynch, TimothyOlszewska, Diana A.Lim, Shen‐YangAhmad‐Annuar, AzlinaTan, Ai HueyAl‐Mubarak, BashayerHanagasi, HasmetKoziorowski, DariuszErtan, SibelGenç, Gençerde Carvalho Aguiar, PatriciaBarkhuizen, MelindaPimentel, Marcia M.G.Saunders‐Pullman, Rachelvan de Warrenburg, BartBressman, SusanToft, MathiasAppel‐Cresswell, SilkeLang, Anthony E.Skorvanek, MatejBoon, Agnita J.W.Krüger, RejkoSammler, Esther M.Tumas, Vitor2023-01-27T15:17:01Z20232023-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/56042engMov Disord. 2023 Jan 240885-318510.1002/mds.292881531-8257info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-11-20T18:19:06Zoai:repositorio.ul.pt:10451/56042Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-11-20T18:19:06Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort |
title |
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort |
spellingShingle |
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort Vollstedt, Eva‐Juliane Parkinson's disease Monogenic PD |
title_short |
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort |
title_full |
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort |
title_fullStr |
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort |
title_full_unstemmed |
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort |
title_sort |
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort |
author |
Vollstedt, Eva‐Juliane |
author_facet |
Vollstedt, Eva‐Juliane Schaake, Susen Lohmann, Katja Padmanabhan, Shalini Brice, Alexis Lesage, Suzanne Tesson, Christelle Vidailhet, Marie Wurster, Isabel Hentati, Faycel Mirelman, Anat 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. Giladi, Nir Arkadir, David Martikainen, Mika Borges, Vanderci Hertz, Jens Michael Brighina, Laura Spitz, Mariana Suchowersky, Oksana Riess, Olaf Das, Parimal Mollenhauer, Brit Marder, Karen Gatto, Emilia M. Petersen, Maria Skaalum Hattori, Nobutaka Wu, Ruey‐Meei Illarioshkin, Sergey N. Valente, Enza Maria Aasly, Jan O. Aasly, Anna Alcalay, Roy N. Thaler, Avner Waters, Cheryl Farrer, Matthew J. Brockmann, Kathrin Corvol, Jean‐Christophe Klein, Christine 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 |
author_role |
author |
author2 |
Schaake, Susen Lohmann, Katja Padmanabhan, Shalini Brice, Alexis Lesage, Suzanne Tesson, Christelle Vidailhet, Marie Wurster, Isabel Hentati, Faycel Mirelman, Anat 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. Giladi, Nir Arkadir, David Martikainen, Mika Borges, Vanderci Hertz, Jens Michael Brighina, Laura Spitz, Mariana Suchowersky, Oksana Riess, Olaf Das, Parimal Mollenhauer, Brit Marder, Karen Gatto, Emilia M. Petersen, Maria Skaalum Hattori, Nobutaka Wu, Ruey‐Meei Illarioshkin, Sergey N. Valente, Enza Maria Aasly, Jan O. Aasly, Anna Alcalay, Roy N. Thaler, Avner Waters, Cheryl Farrer, Matthew J. Brockmann, Kathrin Corvol, Jean‐Christophe Klein, Christine 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 |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório da Universidade de Lisboa |
dc.contributor.author.fl_str_mv |
Vollstedt, Eva‐Juliane Schaake, Susen Lohmann, Katja Padmanabhan, Shalini Brice, Alexis Lesage, Suzanne Tesson, Christelle Vidailhet, Marie Wurster, Isabel Hentati, Faycel Mirelman, Anat 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. Giladi, Nir Arkadir, David Martikainen, Mika Borges, Vanderci Hertz, Jens Michael Brighina, Laura Spitz, Mariana Suchowersky, Oksana Riess, Olaf Das, Parimal Mollenhauer, Brit Marder, Karen Gatto, Emilia M. Petersen, Maria Skaalum Hattori, Nobutaka Wu, Ruey‐Meei Illarioshkin, Sergey N. Valente, Enza Maria Aasly, Jan O. Aasly, Anna Alcalay, Roy N. Thaler, Avner Waters, Cheryl Farrer, Matthew J. Brockmann, Kathrin Corvol, Jean‐Christophe Klein, Christine 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 |
dc.subject.por.fl_str_mv |
Parkinson's disease Monogenic PD |
topic |
Parkinson's disease Monogenic PD |
description |
© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-01-27T15:17:01Z 2023 2023-01-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10451/56042 |
url |
http://hdl.handle.net/10451/56042 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Mov Disord. 2023 Jan 24 0885-3185 10.1002/mds.29288 1531-8257 |
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info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
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Wiley |
publisher.none.fl_str_mv |
Wiley |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
mluisa.alvim@gmail.com |
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1817549218566373376 |