% IMPORTANT: The following is UTF-8 encoded. This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.
@ARTICLE{Vollstedt:258102,
author = {Vollstedt, Eva-Juliane and Schaake, Susen and Lohmann,
Katja and Padmanabhan, Shalini and Brice, Alexis and Lesage,
Suzanne and Tesson, Christelle and Vidailhet, Marie and
Wurster, Isabel and Hentati, Faycel and Mirelman, Anat and
Giladi, Nir and Marder, Karen and Waters, Cheryl and Fahn,
Stanley and Kasten, Meike and Brüggemann, Norbert and
Borsche, Max and Foroud, Tatiana and Tolosa, Eduardo and
Garrido, Alicia and Annesi, Grazia and Gagliardi, Monica and
Bozi, Maria and Stefanis, Leonidas and Ferreira, Joaquim J
and Correia Guedes, Leonor and Avenali, Micol and Petrucci,
Simona and Clark, Lorraine and Fedotova, Ekaterina Y and
Abramycheva, Natalya Y and Alvarez, Victoria and
Menéndez-González, Manuel and Jesús Maestre, Silvia and
Gómez-Garre, Pilar and Mir, Pablo and Belin, Andrea Carmine
and Ran, Caroline and Lin, Chin-Hsien and Kuo, Ming-Che and
Crosiers, David and Wszolek, Zbigniew K and Ross, Owen A and
Jankovic, Joseph and Nishioka, Kenya and Funayama, Manabu
and Clarimon, Jordi and Williams-Gray, Caroline H and
Camacho, Marta and Cornejo-Olivas, Mario and Torres-Ramirez,
Luis and Wu, Yih-Ru and Lee-Chen, Guey-Jen and Morgadinho,
Ana and Pulkes, Teeratorn and Termsarasab, Pichet and Berg,
Daniela and Kuhlenbäumer, Gregor and Kühn, Andrea and
Borngräber, Friederike and de Michele, Giuseppe and De
Rosa, Anna and Zimprich, Alexander and Puschmann, Andreas
and Mellick, George D and Dorszewska, Jolanta and Carr,
Jonathan and Ferese, Rosangela and Gambardella, Stefano and
Chase, Bruce and Markopoulou, Katerina and Satake, Wataru
and Toda, Tatsushi and Rossi, Malco and Merello, Marcelo and
Lynch, Timothy and Olszewska, Diana A and Lim, Shen-Yang and
Ahmad-Annuar, Azlina and Tan, Ai Huey and Al-Mubarak,
Bashayer and Hanagasi, Hasmet and Koziorowski, Dariusz and
Ertan, Sibel and Genç, Gençer and de Carvalho Aguiar,
Patricia and Barkhuizen, Melinda and Pimentel, Marcia M G
and Saunders-Pullman, Rachel and van de Warrenburg, Bart and
Bressman, Susan and Toft, Mathias and Appel-Cresswell, Silke
and Lang, Anthony E and Skorvanek, Matej and Boon, Agnita J
W and Krüger, Rejko and Sammler, Esther M and Tumas, Vitor
and Zhang, Bao-Rong and Garraux, Gaetan and Chung, Sun Ju
and Kim, Yun Joong and Winkelmann, Juliane and Sue, Carolyn
M and Tan, Eng-King and Damásio, Joana and Klivényi,
Péter and Kostic, Vladimir S and Arkadir, David and
Martikainen, Mika and Borges, Vanderci and Hertz, Jens
Michael and Brighina, Laura and Spitz, Mariana and
Suchowersky, Oksana and Riess, Olaf and Das, Parimal and
Mollenhauer, Brit and Gatto, Emilia M and Petersen, Maria
Skaalum and Hattori, Nobutaka and Wu, Ruey-Meei and
Illarioshkin, Sergey N and Valente, Enza Maria and Aasly,
Jan O and Aasly, Anna and Alcalay, Roy N and Thaler, Avner
and Farrer, Matthew J and Brockmann, Kathrin and Corvol,
Jean-Christophe and Klein, Christine},
collaboration = {Group, MJFF Global Genetic Parkinson's Disease Study},
othercontributors = {Aasly, Anna and Aasly, Jan O and Abramycheva, Natalya Y and
Ahmad-Annuar, Azlina and Albanese, Alberto and Alcalay, Roy
N and Aldakheel, Amaal and Alkhairallah, Thamer and
Al-Mubarak, Bashayer and Al-Tassan, Nada and Alvarez,
Victoria and Amami, Paolo and Annesi, Grazia and
Appel-Cresswell, Silke and Leite, Marco Antonio Araujo and
Arkadir, David and Avenali, Micol and Ferraz, Henrique
Ballalai and Bardien, Soraya and Barkhuizen, Melinda and
Barrett, Matthew J and Başak, A Nazlı and Berg, Daniela
and Bilgic, Basar and Bloem, Bastiaan R and Bonifati,
Vincenzo and Boon, Agnita J W and Borges, Vanderci and
Borngräber, Friederike and Borsche, Max and Bozi, Maria and
Bressman, Susan and Brice, Alexis and Brighina, Laura and
Brockmann, Kathrin and Brüggemann, Norbert and Camacho,
Marta and Belin, Andrea Carmine and Carr, Jonathan and
Cesarini, Martin Emiliano and Cornejo-Olivas, Mario and
Chase, Bruce and Chung, Sun Ju and Guedes, Leonor Correia
and Clarimon, Jordi and Clark, Lorraine and Corvol,
Jean-Christophe and Crosiers, David and Das, Parimal and de
Carvalho Aguiar, Patricia and Damásio, Joana and de
Michele, Giuseppe and De Rosa, Anna and Dieguez, Elena and
Dorszewska, Jolanta and Ertan, Sibel and Fahn, Stanley and
Farrer, Matthew J and Fedotova, Ekaterina Y and Ferese,
Rosangela and Ferreira, Joaquim J and Foroud, Tatiana and
Funayama, Manabu and Fung, Victor S C and Gagliardi, Monica
and Gambardella, Stefano and Garraux, Gaetan and Garrido,
Alicia and Gatto, Emilia M and Genç, Gençer and Giladi,
Nir and Gómez-Garre, Pilar and Hanagasi, Hasmet and
Hattori, Nobutaka and Hentati, Faycel and Hertz, Jens
Michael and Illarioshkin, Sergey N and Jankovic, Joseph and
Januario, Cristina and Maestre, Silvia Jesús and Kaasinen,
Valtteri and Kasten, Meike and Kataoka, Hiroshi and Kievit,
Anneke A and Kim, Yun Joong and Klein, Christine and
Klivényi, Péter and Kostic, Vladimir S and Koziorowski,
Dariusz and Krüger, Rejko and Kühn, Andrea and
Kuhlenbäumer, Gregor and Kuo, Ming-Che and Lang, Anthony E
and Lee-Chen, Guey-Jen and Lesage, Suzanne and Lim, Jia Lun
and Lim, Shen-Yang and Lin, Chin-Hsien and Lohmann, Katja
and Lynch, Timothy and Marder, Karen and Markopoulou,
Katerina and Martikainen, Mika and May, Patrick and
McCarthy, Allan and Mellick, George D and
Menéndez-González, Manuel and Merello, Marcelo and Mir,
Pablo and Mirelman, Anat and Mollenhauer, Brit and Briceno,
Hugo Morales and Morgadinho, Ana and Morris, Huw and
Mosejova, Alexandra and Nishioka, Kenya and Çakmak, Özgür
Öztop and Olszewska, Diana A and Orr-Urtreger, Avi and
Pachchek, Sinthuja and Padmanabhan, Shalini and Periñán,
Maria Teresa and Petrucci, Simona and Pimentel, Marcia M G
and Procopio, Radha and Pulkes, Teeratorn and Puschmann,
Andreas and Ran, Caroline and Riess, Olaf and Ross, Owen A
and Rossi, Malco and Ruiz-Martinez, Javier and Sammler,
Esther M and Pereira, João Santos and Satake, Wataru and
Saunders-Pullman, Rachel and Schaake, Susen and Petersen,
Maria Skaalum and Skorvanek, Matej and Stefanis, Leonidas
and Soto-Beasley, Alexandra I and Sousa, Mário and Spitz,
Mariana and Suchowersky, Oksana and Sue, Carolyn M and Tan,
Ai Huey and Tan, Eng-King and Thaler, Avner and Tepgeç,
Fatih and Termsarasab, Pichet and Tesson, Christelle and
Toda, Tatsushi and Toft, Mathias and Tolosa, Eduardo and
Torres-Ramirez, Luis and Tumas, Vitor and Uyguner, Oya and
Valente, Enza Maria and van de Warrenburg, Bart and
Vidailhet, Marie and Vollstedt, Eva-Juliane and Walton,
Ronald L and Waters, Cheryl and Williams-Gray, Caroline H
and Winkelmann, Juliane and Wu, Yih-Ru and Wurster, Isabel
and Wszolek, Zbigniew K and Wu, Ruey-Meei and Zhang,
Bao-Rong and Zimprich, Alexander},
title = {{E}mbracing {M}onogenic {P}arkinson's {D}isease: {T}he
{MJFF} {G}lobal {G}enetic {PD} {C}ohort.},
journal = {Movement disorders},
volume = {38},
number = {2},
issn = {0885-3185},
address = {New York, NY},
publisher = {Wiley},
reportid = {DZNE-2023-00564},
pages = {286 - 303},
year = {2023},
abstract = {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.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.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.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.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.},
keywords = {Humans / Parkinson Disease: genetics / Mutation /
Parkinson's disease (Other) / monogenic PD (Other)},
cin = {AG Gasser},
ddc = {610},
cid = {I:(DE-2719)1210000},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:36692014},
doi = {10.1002/mds.29288},
url = {https://pub.dzne.de/record/258102},
}
guest ::