http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt, E.-J. ; Schaake, S. ; Lohmann, K. ; Padmanabhan, S. ; Brice, A. ; Lesage, S. ; Tesson, C. ; Vidailhet, M. ; Wurster, I.DZNE* ; Hentati, F. ; Mirelman, A. ; Giladi, N. ; Marder, K. ; Waters, C. ; Fahn, S. ; Kasten, M. ; Brüggemann, N. ; Borsche, M. ; Foroud, T. ; Tolosa, E. ; Garrido, A. ; Annesi, G. ; Gagliardi, M. ; Bozi, M. ; Stefanis, L. ; Ferreira, J. J. ; Correia Guedes, L. ; Avenali, M. ; Petrucci, S. ; Clark, L. ; Fedotova, E. Y. ; Abramycheva, N. Y. ; Alvarez, V. ; Menéndez-González, M. ; Jesús Maestre, S. ; Gómez-Garre, P. ; Mir, P. ; Belin, A. C. ; Ran, C. ; Lin, C.-H. ; Kuo, M.-C. ; Crosiers, D. ; Wszolek, Z. K. ; Ross, O. A. ; Jankovic, J. ; Nishioka, K. ; Funayama, M. ; Clarimon, J. ; Williams-Gray, C. H. ; Camacho, M. ; Cornejo-Olivas, M. ; Torres-Ramirez, L. ; Wu, Y.-R. ; Lee-Chen, G.-J. ; Morgadinho, A. ; Pulkes, T. ; Termsarasab, P. ; Berg, D. ; Kuhlenbäumer, G. ; Kühn, A.Extern* ; Borngräber, F. ; de Michele, G. ; De Rosa, A. ; Zimprich, A. ; Puschmann, A. ; Mellick, G. D. ; Dorszewska, J. ; Carr, J. ; Ferese, R. ; Gambardella, S. ; Chase, B. ; Markopoulou, K. ; Satake, W. ; Toda, T. ; Rossi, M. ; Merello, M. ; Lynch, T. ; Olszewska, D. A. ; Lim, S.-Y. ; Ahmad-Annuar, A. ; Tan, A. H. ; Al-Mubarak, B. ; Hanagasi, H. ; Koziorowski, D. ; Ertan, S. ; Genç, G. ; de Carvalho Aguiar, P. ; Barkhuizen, M. ; Pimentel, M. M. G. ; Saunders-Pullman, R. ; van de Warrenburg, B. ; Bressman, S. ; Toft, M. ; Appel-Cresswell, S. ; Lang, A. E. ; Skorvanek, M. ; Boon, A. J. W. ; Krüger, R.Extern* ; Sammler, E. M. ; Tumas, V. ; Zhang, B.-R. ; Garraux, G. ; Chung, S. J. ; Kim, Y. J. ; Winkelmann, J. ; Sue, C. M. ; Tan, E.-K. ; Damásio, J. ; Klivényi, P. ; Kostic, V. S. ; Arkadir, D. ; Martikainen, M. ; Borges, V. ; Hertz, J. M. ; Brighina, L. ; Spitz, M. ; Suchowersky, O. ; Riess, O. ; Das, P. ; Mollenhauer, B.Extern* ; Gatto, E. M. ; Petersen, M. S. ; Hattori, N. ; Wu, R.-M. ; Illarioshkin, S. N. ; Valente, E. M. ; Aasly, J. O. ; Aasly, A. ; Alcalay, R. N. ; Thaler, A. ; Farrer, M. J. ; Brockmann, K.DZNE* ; Corvol, J.-C. ; Klein, C. ; Group, M. G. G. P. D. S. (Collaboration Author) ; Aasly, A. (Contributor) ; Aasly, J. O. (Contributor) ; Abramycheva, N. Y. (Contributor) ; Ahmad-Annuar, A. (Contributor) ; Albanese, A. (Contributor) ; Alcalay, R. N. (Contributor) ; Aldakheel, A. (Contributor) ; Alkhairallah, T. (Contributor) ; Al-Mubarak, B. (Contributor) ; Al-Tassan, N. (Contributor) ; Alvarez, V. (Contributor) ; Amami, P. (Contributor) ; Annesi, G. (Contributor) ; Appel-Cresswell, S. (Contributor) ; Leite, M. A. A. (Contributor) ; Arkadir, D. (Contributor) ; Avenali, M. (Contributor) ; Ferraz, H. B. (Contributor) ; Bardien, S. (Contributor) ; Barkhuizen, M. (Contributor) ; Barrett, M. J. (Contributor) ; Başak, A. N. (Contributor) ; Berg, D. (Contributor) ; Bilgic, B. (Contributor) ; Bloem, B. R. (Contributor) ; Bonifati, V. (Contributor) ; Boon, A. J. W. (Contributor) ; Borges, V. (Contributor) ; Borngräber, F. (Contributor) ; Borsche, M. (Contributor) ; Bozi, M. (Contributor) ; Bressman, S. (Contributor) ; Brice, A. (Contributor) ; Brighina, L. (Contributor) ; Brockmann, K. (Contributor)Extern* ; Brüggemann, N. (Contributor) ; Camacho, M. (Contributor) ; Belin, A. C. (Contributor) ; Carr, J. (Contributor) ; Cesarini, M. E. (Contributor) ; Cornejo-Olivas, M. (Contributor) ; Chase, B. (Contributor) ; Chung, S. J. (Contributor) ; Guedes, L. C. (Contributor) ; Clarimon, J. (Contributor) ; Clark, L. (Contributor) ; Corvol, J.-C. (Contributor) ; Crosiers, D. (Contributor) ; Das, P. (Contributor) ; de Carvalho Aguiar, P. (Contributor) ; Damásio, J. (Contributor) ; de Michele, G. (Contributor) ; De Rosa, A. (Contributor) ; Dieguez, E. (Contributor) ; Dorszewska, J. (Contributor) ; Ertan, S. (Contributor) ; Fahn, S. (Contributor) ; Farrer, M. J. (Contributor) ; Fedotova, E. Y. (Contributor) ; Ferese, R. (Contributor) ; Ferreira, J. J. (Contributor) ; Foroud, T. (Contributor) ; Funayama, M. (Contributor) ; Fung, V. S. C. (Contributor) ; Gagliardi, M. (Contributor) ; Gambardella, S. (Contributor) ; Garraux, G. (Contributor) ; Garrido, A. (Contributor) ; Gatto, E. M. (Contributor) ; Genç, G. (Contributor) ; Giladi, N. (Contributor) ; Gómez-Garre, P. (Contributor) ; Hanagasi, H. (Contributor) ; Hattori, N. (Contributor) ; Hentati, F. (Contributor) ; Hertz, J. M. (Contributor) ; Illarioshkin, S. N. (Contributor) ; Jankovic, J. (Contributor) ; Januario, C. (Contributor) ; Maestre, S. J. (Contributor) ; Kaasinen, V. (Contributor) ; Kasten, M. (Contributor) ; Kataoka, H. (Contributor) ; Kievit, A. A. (Contributor) ; Kim, Y. J. (Contributor) ; Klein, C. (Contributor) ; Klivényi, P. (Contributor) ; Kostic, V. S. (Contributor) ; Koziorowski, D. (Contributor) ; Krüger, R. (Contributor)Extern* ; Kühn, A. (Contributor)Extern* ; Kuhlenbäumer, G. (Contributor) ; Kuo, M.-C. (Contributor) ; Lang, A. E. (Contributor) ; Lee-Chen, G.-J. (Contributor) ; Lesage, S. (Contributor) ; Lim, J. L. (Contributor) ; Lim, S.-Y. (Contributor) ; Lin, C.-H. (Contributor) ; Lohmann, K. (Contributor) ; Lynch, T. (Contributor) ; Marder, K. (Contributor) ; Markopoulou, K. (Contributor) ; Martikainen, M. (Contributor) ; May, P. (Contributor) ; McCarthy, A. (Contributor) ; Mellick, G. D. (Contributor) ; Menéndez-González, M. (Contributor) ; Merello, M. (Contributor) ; Mir, P. (Contributor) ; Mirelman, A. (Contributor) ; Mollenhauer, B. (Contributor)Extern* ; Briceno, H. M. (Contributor) ; Morgadinho, A. (Contributor) ; Morris, H. (Contributor) ; Mosejova, A. (Contributor) ; Nishioka, K. (Contributor) ; Çakmak, Ö. Ö. (Contributor) ; Olszewska, D. A. (Contributor) ; Orr-Urtreger, A. (Contributor) ; Pachchek, S. (Contributor) ; Padmanabhan, S. (Contributor) ; Periñán, M. T. (Contributor) ; Petrucci, S. (Contributor) ; Pimentel, M. M. G. (Contributor) ; Procopio, R. (Contributor) ; Pulkes, T. (Contributor) ; Puschmann, A. (Contributor) ; Ran, C. (Contributor) ; Riess, O. (Contributor) ; Ross, O. A. (Contributor) ; Rossi, M. (Contributor) ; Ruiz-Martinez, J. (Contributor) ; Sammler, E. M. (Contributor) ; Pereira, J. S. (Contributor) ; Satake, W. (Contributor) ; Saunders-Pullman, R. (Contributor) ; Schaake, S. (Contributor) ; Petersen, M. S. (Contributor) ; Skorvanek, M. (Contributor) ; Stefanis, L. (Contributor) ; Soto-Beasley, A. I. (Contributor) ; Sousa, M. (Contributor) ; Spitz, M. (Contributor) ; Suchowersky, O. (Contributor) ; Sue, C. M. (Contributor) ; Tan, A. H. (Contributor) ; Tan, E.-K. (Contributor) ; Thaler, A. (Contributor) ; Tepgeç, F. (Contributor) ; Termsarasab, P. (Contributor) ; Tesson, C. (Contributor) ; Toda, T. (Contributor) ; Toft, M. (Contributor) ; Tolosa, E. (Contributor) ; Torres-Ramirez, L. (Contributor) ; Tumas, V. (Contributor) ; Uyguner, O. (Contributor) ; Valente, E. M. (Contributor) ; van de Warrenburg, B. (Contributor) ; Vidailhet, M. (Contributor) ; Vollstedt, E.-J. (Contributor) ; Walton, R. L. (Contributor) ; Waters, C. (Contributor) ; Williams-Gray, C. H. (Contributor) ; Winkelmann, J. (Contributor) ; Wu, Y.-R. (Contributor) ; Wurster, I. (Contributor)Extern* ; Wszolek, Z. K. (Contributor) ; Wu, R.-M. (Contributor) ; Zhang, B.-R. (Contributor) ; Zimprich, A. (Contributor)
2023
Wiley
New York, NY
This record in other databases: 
Please use a persistent id in citations: doi:10.1002/mds.29288
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.
Keyword(s): Humans (MeSH) ; Parkinson Disease: genetics (MeSH) ; Mutation (MeSH) ; Parkinson's disease ; monogenic PD
Contributing Institute(s):
- Parkinson Genetics (AG Gasser)
Research Program(s):
- 353 - Clinical and Health Care Research (POF4-353) (POF4-353)
Appears in the scientific report
2023
Database coverage: ;
;
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; Nationallizenz
; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection
guest ::
PDF
PDF (PDFA)