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Vollstedt, E.J.* ; Schaake, S.* ; Lohmann, K.* ; Padmanabhan, S.* ; Brice, A.* ; Lesage, S.* ; Tesson, C.* ; Vidailhet, M.* ; Wurster, I.* ; 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.* ; Correia Guedes, L.* ; Avenali, M.* ; Petrucci, S.* ; Clark, L.* ; Fedotova, E.Y.* ; Alvarez, V.* ; Menéndez-González, M.* ; Jesús Maestre, S.* ; Gómez-Garre, P.* ; Mir, P.* ; Belin, A.C.* ; Jankovic, J.* ; Nishioka, K.* ; Funayama, M.* ; Clarimõn, J.* ; Williams-Gray, C.H.* ; Camacho, M.* ; Cornejo-Olivas, M.* ; Torres-Ramirez, L.* ; Wu, Y.R.* ; Lee-Chen, G.J.* ; Morgadinho, A.* ; Pulkes, T.* ; 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.* ; 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.* ; Škorvánek, M.* ; Boon, A.J.W.* ; Krüger, R.* ; Sammler, E.M.* ; Tumas, V.* ; Winkelmann, J. ; Damásio, J.* ; Klivényi, P.* ; Hattori, N.* ; Illarioshkin, S.N.* ; Klein, C.*

Embracing monogenic Parkinson's disease: The MJFF global genetic PD cohort.

Mov. Disord. 38, 286-303 (2023)
Verlagsversion DOI PMC
Open Access Gold (Paid Option)
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Monogenic Pd ; Parkinson's Disease
ISSN (print) / ISBN 0885-3185
e-ISSN 1531-8257
Zeitschrift Movement Disorders
Quellenangaben Band: 38, Heft: 2, Seiten: 286-303 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen Department of Health