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Journal Articles Movement Disorders Year : 2023

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

Eva‐juliane Vollstedt (1) , Susen Schaake (1) , Katja Lohmann (1) , Shalini Padmanabhan (2) , Alexis Brice (3) , Suzanne Lesage (3) , Christelle Tesson (3) , Marie Vidailhet (3) , Isabel Wurster (4) , Faycel Hentati (5) , Anat Mirelman (6, 7) , Nir Giladi (6, 7) , Karen Marder (8) , Cheryl Waters (9) , Stanley Fahn (9) , Meike Kasten (1) , Norbert Brüggemann (1) , Max Borsche (1) , Tatiana Foroud (10) , Eduardo Tolosa (11, 12) , Alicia Garrido (11, 12) , Grazia Annesi , Monica Gagliardi , Maria Bozi (13, 14) , Leonidas Stefanis , Joaquim J Ferreira , Leonor Correia Guedes , Micol Avenali , Simona Petrucci , Lorraine Clark , Ekaterina Y Fedotova , Natalya Y Abramycheva , Victoria Alvarez , Manuel Menéndez-González , Silvia Jesús Maestre , Pilar Gómez-Garre , Pablo Mir , Andrea Carmine Belin , Caroline Ran , Chin‐hsien Lin , Ming‐che Kuo , David Crosiers , Zbigniew K Wszolek , Owen A Ross , Joseph Jankovic , Kenya Nishioka , Manabu Funayama , Jordi Clarimon , Caroline H Williams‐gray , Marta Camacho , Mario Cornejo‐olivas , Luis Torres-Ramirez , Yih‐ru Wu , Guey‐jen Lee-Chen , Ana Morgadinho , Teeratorn Pulkes , Pichet Termsarasab , Daniela Berg , Gregor Kuhlenbäumer , Andrea A Kühn , Friederike Borngräber , Giuseppe de Michele , Anna de Rosa , Alexander Zimprich , Andreas Puschmann , George D Mellick , Jolanta Dorszewska , Jonathan Carr , Rosangela Ferese , Stefano Gambardella , Bruce Chase , Katerina Markopoulou , Wataru Satake , Tatsushi Toda , Malco Rossi , Marcelo Merello , Timothy Lynch , Diana A Olszewska , Shen‐yang Lim , Azlina Ahmad-Annuar , Ai Huey Tan , Bashayer Al-Mubarak , Hasmet Hanagasi , Dariusz Koziorowski , Sibel Ertan , Gençer Genç , Patricia de Carvalho Aguiar , Melinda Barkhuizen , Marcia M.G. Pimentel , Rachel Saunders-Pullman , Bart van de Warrenburg , Susan Bressman , Mathias Toft , Silke Appel‐cresswell , Anthony E Lang , Matej Skorvanek , Agnita J.W. Boon , Rejko Krüger , Esther M Sammler , Vitor Tumas , Bao‐rong Zhang , Gaetan Garraux , Sun Ju Chung , Yun Joong Kim , Juliane Winkelmann , Carolyn M Sue , Eng‐king Tan , Joana Damásio , Péter Klivényi , Vladimir S Kostic , David Arkadir , Mika Martikainen , Vanderci Borges , Jens Michael Hertz , Laura Brighina , Mariana Spitz , Oksana Suchowersky , Olaf Riess , Parimal Das , Brit Mollenhauer , Emilia M Gatto , Maria Skaalum Petersen , Nobutaka Hattori , Ruey‐meei Wu , Sergey N Illarioshkin , Enza Maria Valente , Jan O Aasly , Anna Aasly , Roy N Alcalay , Avner Thaler , Matthew J Farrer , Kathrin Brockmann (4) , Jean‐christophe Corvol (3) , Christine Klein (1) , Anna Aasly , Jan O Aasly , Natalya Y Abramycheva , Azlina Ahmad-Annuar , Alberto Albanese , Roy N Alcalay , Amaal Aldakheel , Thamer Alkhairallah , Bashayer Al-Mubarak , Nada Al-Tassan , Victoria Alvarez , Paolo Amami , Grazia Annesi , Silke Appel-Cresswell , Marco Antonio Araujo Leite , David Arkadir , Micol Avenali , Henrique Ballalai Ferraz , Soraya Bardien , Melinda Barkhuizen , Matthew J Barrett , a Nazlı Başak , Daniela Berg , Basar Bilgic , Bastiaan R Bloem , Vincenzo Bonifati , Agnita J W Boon , Vanderci Borges , Friederike Borngräber , Max Borsche , Maria Bozi , Susan Bressman , Alexis Brice , Laura Brighina , Kathrin Brockmann , Norbert Brüggemann , Marta Camacho , Andrea Carmine Belin , Jonathan Carr , Martin Emiliano Cesarini , Mario Cornejo-Olivas , Bruce Chase , Sun Ju Chung , Leonor Correia Guedes , Jordi Clarimon , Lorraine Clark , Jean-Christophe Corvol (3) , David Crosiers , Parimal Das , Patricia de Carvalho Aguiar , Joana Damásio , Giuseppe De Michele , Anna De Rosa , Elena Dieguez , Jolanta Dorszewska , Sibel Ertan , Stanley Fahn , Matthew J Farrer , Ekaterina Y Fedotova , Rosangela Ferese , Joaquim J Ferreira , Tatiana Foroud , Manabu Funayama , Victor S C Fung , Monica Gagliardi , Stefano Gambardella , Gaetan Garraux , Alicia Garrido , Emilia M Gatto , Gençer Genç , Nir Giladi , Pilar Gómez-Garre , Hasmet Hanagasi , Nobutaka Hattori , Faycel Hentati , Jens Michael Hertz , Sergey N Illarioshkin , Joseph Jankovic , Cristina Januario , Silvia Jesús Maestre , Valtteri Kaasinen , Meike Kasten , Hiroshi Kataoka , Anneke A Kievit , Yun Joong Kim , Christine Klein , Péter Klivényi , Vladimir S Kostic , Dariusz Koziorowski , Rejko Krüger , Andrea A Kühn , Gregor Kuhlenbäumer , Ming-Che Kuo , Anthony E Lang , Guey-Jen Lee-Chen , Suzanne Lesage (3) , Jia Lun Lim , Shen-Yang Lim , Chin-Hsien Lin , Katja Lohmann , Timothy Lynch , Karen Marder , Katerina Markopoulou , Mika Martikainen , Patrick May , Allan Mccarthy , George D Mellick , Manuel Menéndez-González , Marcelo Merello , Pablo Mir , Anat Mirelman , Brit Mollenhauer , Hugo Morales Briceno , Ana Morgadinho , Huw Morris , Alexandra Mosejova , Kenya Nishioka , Özgür Öztop Çakmak , Diana A Olszewska , Avi Orr-Urtreger , Sinthuja Pachchek , Shalini Padmanabhan , Maria Teresa Periñán , Simona Petrucci , Marcia M G Pimentel , Radha Procopio , Teeratorn Pulkes , Andreas Puschmann , Caroline Ran , Olaf Riess , Owen A Ross , Malco Rossi , Javier Ruiz-Martinez , Esther M Sammler , João Santos Pereira , Wataru Satake , Rachel Saunders-Pullman , Susen Schaake , Maria Skaalum Petersen , Matej Skorvanek , Leonidas Stefanis , Alexandra I Soto-Beasley , Mário Sousa , Mariana Spitz , Oksana Suchowersky , Carolyn M Sue , Ai Huey Tan , Eng-King Tan , Avner Thaler , Fatih Tepgeç , Pichet Termsarasab , Christelle Tesson , Tatsushi Toda , Mathias Toft , Eduardo Tolosa , Luis Torres-Ramirez , Vitor Tumas , Oya Uyguner , Enza Maria Valente , Bart van De Warrenburg , Marie Vidailhet , Eva-Juliane Vollstedt , Ronald L Walton , Cheryl Waters , Caroline H Williams-Gray , Juliane Winkelmann , Yih-Ru Wu , Isabel Wurster , Zbigniew K Wszolek , Ruey-Meei Wu , Bao-Rong Zhang , Alexander Zimprich
Grazia Annesi
  • Function : Author
Monica Gagliardi
  • Function : Author
Leonidas Stefanis
  • Function : Author
Joaquim J Ferreira
Leonor Correia Guedes
  • Function : Author
Micol Avenali
  • Function : Author
Simona Petrucci
  • Function : Author
Lorraine Clark
  • Function : Author
Ekaterina Y Fedotova
  • Function : Author
Natalya Y Abramycheva
  • Function : Author
Victoria Alvarez
Manuel Menéndez-González
  • Function : Author
Silvia Jesús Maestre
  • Function : Author
Pilar Gómez-Garre
  • Function : Author
Pablo Mir
Andrea Carmine Belin
  • Function : Author
Caroline Ran
  • Function : Author
Chin‐hsien Lin
  • Function : Author
Ming‐che Kuo
David Crosiers
  • Function : Author
Zbigniew K Wszolek
  • Function : Author
Owen A Ross
Joseph Jankovic
  • Function : Author
Kenya Nishioka
Manabu Funayama
  • Function : Author
Jordi Clarimon
  • Function : Author
Caroline H Williams‐gray
Marta Camacho
Mario Cornejo‐olivas
Luis Torres-Ramirez
  • Function : Author
Yih‐ru Wu
Guey‐jen Lee-Chen
  • Function : Author
Ana Morgadinho
  • Function : Author
Teeratorn Pulkes
  • Function : Author
Pichet Termsarasab
Daniela Berg
  • Function : Author
Gregor Kuhlenbäumer
  • Function : Author
Andrea A Kühn
  • Function : Author
Friederike Borngräber
Giuseppe de Michele
  • Function : Author
Anna de Rosa
  • Function : Author
Alexander Zimprich
Andreas Puschmann
  • Function : Author
George D Mellick
  • Function : Author
Jolanta Dorszewska
  • Function : Author
Jonathan Carr
  • Function : Author
Rosangela Ferese
  • Function : Author
Stefano Gambardella
Bruce Chase
Katerina Markopoulou
  • Function : Author
Wataru Satake
  • Function : Author
Tatsushi Toda
  • Function : Author
Malco Rossi
  • Function : Author
Marcelo Merello
  • Function : Author
Timothy Lynch
  • Function : Author
Diana A Olszewska
Shen‐yang Lim
  • Function : Author
Azlina Ahmad-Annuar
  • Function : Author
Ai Huey Tan
Bashayer Al-Mubarak
  • Function : Author
Hasmet Hanagasi
  • Function : Author
Dariusz Koziorowski
  • Function : Author
Sibel Ertan
  • Function : Author
Gençer Genç
  • Function : Author
Patricia de Carvalho Aguiar
  • Function : Author
Melinda Barkhuizen
Marcia M.G. Pimentel
  • Function : Author
Rachel Saunders-Pullman
  • Function : Author
Bart van de Warrenburg
  • Function : Author
Susan Bressman
  • Function : Author
Mathias Toft
  • Function : Author
Silke Appel‐cresswell
Anthony E Lang
  • Function : Author
Matej Skorvanek
Agnita J.W. Boon
  • Function : Author
Rejko Krüger
  • Function : Author
Esther M Sammler
Vitor Tumas
  • Function : Author
Bao‐rong Zhang
Gaetan Garraux
  • Function : Author
Sun Ju Chung
Yun Joong Kim
  • Function : Author
Juliane Winkelmann
  • Function : Author
Carolyn M Sue
  • Function : Author
Eng‐king Tan
  • Function : Author
Joana Damásio
  • Function : Author
Péter Klivényi
  • Function : Author
Vladimir S Kostic
  • Function : Author
David Arkadir
  • Function : Author
Mika Martikainen
  • Function : Author
Vanderci Borges
  • Function : Author
Jens Michael Hertz
  • Function : Author
Laura Brighina
  • Function : Author
Mariana Spitz
  • Function : Author
Oksana Suchowersky
  • Function : Author
Olaf Riess
  • Function : Author
Parimal Das
  • Function : Author
Brit Mollenhauer
  • Function : Author
Emilia M Gatto
  • Function : Author
Maria Skaalum Petersen
  • Function : Author
Nobutaka Hattori
  • Function : Author
Ruey‐meei Wu
  • Function : Author
Sergey N Illarioshkin
  • Function : Author
Enza Maria Valente
  • Function : Author
Jan O Aasly
  • Function : Author
Anna Aasly
  • Function : Author
Roy N Alcalay
  • Function : Author
Avner Thaler
  • Function : Author
Matthew J Farrer
  • Function : Author
Anna Aasly
  • Function : Author
Jan O Aasly
  • Function : Author
Natalya Y Abramycheva
  • Function : Author
Azlina Ahmad-Annuar
  • Function : Author
Alberto Albanese
  • Function : Author
Roy N Alcalay
  • Function : Author
Amaal Aldakheel
  • Function : Author
Thamer Alkhairallah
  • Function : Author
Bashayer Al-Mubarak
  • Function : Author
Nada Al-Tassan
  • Function : Author
Victoria Alvarez
  • Function : Author
Paolo Amami
  • Function : Author
Grazia Annesi
  • Function : Author
Silke Appel-Cresswell
  • Function : Author
Marco Antonio Araujo Leite
  • Function : Author
David Arkadir
  • Function : Author
Micol Avenali
  • Function : Author
Henrique Ballalai Ferraz
  • Function : Author
Soraya Bardien
  • Function : Author
Melinda Barkhuizen
  • Function : Author
Matthew J Barrett
  • Function : Author
a Nazlı Başak
  • Function : Author
Daniela Berg
  • Function : Author
Basar Bilgic
  • Function : Author
Bastiaan R Bloem
  • Function : Author
Vincenzo Bonifati
  • Function : Author
Agnita J W Boon
  • Function : Author
Vanderci Borges
  • Function : Author
Friederike Borngräber
  • Function : Author
Max Borsche
  • Function : Author
Maria Bozi
  • Function : Author
Susan Bressman
  • Function : Author
Alexis Brice
  • Function : Author
Laura Brighina
  • Function : Author
Kathrin Brockmann
  • Function : Author
Norbert Brüggemann
  • Function : Author
Marta Camacho
  • Function : Author
Andrea Carmine Belin
  • Function : Author
Jonathan Carr
  • Function : Author
Martin Emiliano Cesarini
  • Function : Author
Mario Cornejo-Olivas
  • Function : Author
Bruce Chase
  • Function : Author
Sun Ju Chung
  • Function : Author
Leonor Correia Guedes
  • Function : Author
Jordi Clarimon
  • Function : Author
Lorraine Clark
  • Function : Author
David Crosiers
  • Function : Author
Parimal Das
  • Function : Author
Patricia de Carvalho Aguiar
  • Function : Author
Joana Damásio
  • Function : Author
Giuseppe De Michele
  • Function : Author
Anna De Rosa
  • Function : Author
Elena Dieguez
  • Function : Author
Jolanta Dorszewska
  • Function : Author
Sibel Ertan
  • Function : Author
Stanley Fahn
  • Function : Author
Matthew J Farrer
  • Function : Author
Ekaterina Y Fedotova
  • Function : Author
Rosangela Ferese
  • Function : Author
Joaquim J Ferreira
  • Function : Author
Tatiana Foroud
  • Function : Author
Manabu Funayama
  • Function : Author
Victor S C Fung
  • Function : Author
Monica Gagliardi
  • Function : Author
Stefano Gambardella
  • Function : Author
Gaetan Garraux
  • Function : Author
Alicia Garrido
  • Function : Author
Emilia M Gatto
  • Function : Author
Gençer Genç
  • Function : Author
Nir Giladi
  • Function : Author
Pilar Gómez-Garre
  • Function : Author
Hasmet Hanagasi
  • Function : Author
Nobutaka Hattori
  • Function : Author
Faycel Hentati
  • Function : Author
Jens Michael Hertz
  • Function : Author
Sergey N Illarioshkin
  • Function : Author
Joseph Jankovic
  • Function : Author
Cristina Januario
  • Function : Author
Silvia Jesús Maestre
  • Function : Author
Valtteri Kaasinen
  • Function : Author
Meike Kasten
  • Function : Author
Hiroshi Kataoka
  • Function : Author
Anneke A Kievit
  • Function : Author
Yun Joong Kim
  • Function : Author
Christine Klein
  • Function : Author
Péter Klivényi
  • Function : Author
Vladimir S Kostic
  • Function : Author
Dariusz Koziorowski
  • Function : Author
Rejko Krüger
  • Function : Author
Andrea A Kühn
  • Function : Author
Gregor Kuhlenbäumer
  • Function : Author
Ming-Che Kuo
  • Function : Author
Anthony E Lang
  • Function : Author
Guey-Jen Lee-Chen
  • Function : Author
Jia Lun Lim
  • Function : Author
Shen-Yang Lim
  • Function : Author
Chin-Hsien Lin
  • Function : Author
Katja Lohmann
  • Function : Author
Timothy Lynch
  • Function : Author
Karen Marder
  • Function : Author
Katerina Markopoulou
  • Function : Author
Mika Martikainen
  • Function : Author
Patrick May
  • Function : Author
Allan Mccarthy
  • Function : Author
George D Mellick
  • Function : Author
Manuel Menéndez-González
  • Function : Author
Marcelo Merello
  • Function : Author
Pablo Mir
  • Function : Author
Anat Mirelman
  • Function : Author
Brit Mollenhauer
  • Function : Author
Hugo Morales Briceno
  • Function : Author
Ana Morgadinho
  • Function : Author
Huw Morris
  • Function : Author
Alexandra Mosejova
  • Function : Author
Kenya Nishioka
  • Function : Author
Özgür Öztop Çakmak
  • Function : Author
Diana A Olszewska
  • Function : Author
Avi Orr-Urtreger
  • Function : Author
Sinthuja Pachchek
  • Function : Author
Shalini Padmanabhan
  • Function : Author
Maria Teresa Periñán
  • Function : Author
Simona Petrucci
  • Function : Author
Marcia M G Pimentel
  • Function : Author
Radha Procopio
  • Function : Author
Teeratorn Pulkes
  • Function : Author
Andreas Puschmann
  • Function : Author
Caroline Ran
  • Function : Author
Olaf Riess
  • Function : Author
Owen A Ross
  • Function : Author
Malco Rossi
  • Function : Author
Javier Ruiz-Martinez
  • Function : Author
Esther M Sammler
  • Function : Author
João Santos Pereira
  • Function : Author
Wataru Satake
  • Function : Author
Rachel Saunders-Pullman
  • Function : Author
Susen Schaake
  • Function : Author
Maria Skaalum Petersen
  • Function : Author
Matej Skorvanek
  • Function : Author
Leonidas Stefanis
  • Function : Author
Alexandra I Soto-Beasley
  • Function : Author
Mário Sousa
  • Function : Author
Mariana Spitz
  • Function : Author
Oksana Suchowersky
  • Function : Author
Carolyn M Sue
  • Function : Author
Ai Huey Tan
  • Function : Author
Eng-King Tan
  • Function : Author
Avner Thaler
  • Function : Author
Fatih Tepgeç
  • Function : Author
Pichet Termsarasab
  • Function : Author
Christelle Tesson
  • Function : Author
Tatsushi Toda
  • Function : Author
Mathias Toft
  • Function : Author
Eduardo Tolosa
  • Function : Author
Luis Torres-Ramirez
  • Function : Author
Vitor Tumas
  • Function : Author
Oya Uyguner
  • Function : Author
Enza Maria Valente
  • Function : Author
Bart van De Warrenburg
  • Function : Author
Marie Vidailhet
  • Function : Author
Eva-Juliane Vollstedt
  • Function : Author
Ronald L Walton
  • Function : Author
Cheryl Waters
  • Function : Author
Caroline H Williams-Gray
  • Function : Author
Juliane Winkelmann
  • Function : Author
Yih-Ru Wu
  • Function : Author
Isabel Wurster
  • Function : Author
Zbigniew K Wszolek
  • Function : Author
Ruey-Meei Wu
  • Function : Author
Bao-Rong Zhang
  • Function : Author
Alexander Zimprich
  • Function : Author

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.
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hal-04530979 , version 1 (03-04-2024)

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Eva‐juliane Vollstedt, Susen Schaake, Katja Lohmann, Shalini Padmanabhan, Alexis Brice, et al.. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. Movement Disorders, 2023, 38 (2), pp.286-303. ⟨10.1002/mds.29288⟩. ⟨hal-04530979⟩
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