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

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dc.contributor.author Vollstedt, Eva-Juliane
dc.contributor.author Schaake, Susen
dc.contributor.author Lohmann, Katja
dc.contributor.author Padmanabhan, Shalini
dc.contributor.author Brice, Alexis
dc.contributor.author Lesage, Suzanne
dc.contributor.author Tesson, Christelle
dc.contributor.author Vidailhet, Marie
dc.contributor.author Wurster, Isabel
dc.contributor.author Hentati, Faycel
dc.contributor.author Mirelman, Anat
dc.contributor.author Giladi, Nir
dc.contributor.author Marder, Karen S.
dc.contributor.author Waters, Cheryl
dc.contributor.author Fahn, Stanley
dc.contributor.author Kasten, Meike
dc.contributor.author Brüggemann, Norbert
dc.contributor.author Rossi, Malco Damián
dc.contributor.author Merello, Marcelo
dc.contributor.author MJFF Global Genetic Parkinson's Disease Study Group
dc.date.accessioned 2023-09-06T17:03:16Z
dc.date.available 2023-09-06T17:03:16Z
dc.date.issued 2023-01-24
dc.identifier.citation 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., 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.A., 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.D., 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., 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., 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., Corvol, J.-C., Klein, C., MJFF Global Genetic Parkinson’s Disease Study Group, 2023. Embracing Monogenic Parkinson’s Disease: The MJFF Global Genetic PD Cohort. Mov Disord. https://doi.org/10.1002/mds.29288 es_ES
dc.identifier.uri https://doi.org/10.1002/mds.29288
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/825
dc.description.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. es_ES
dc.language.iso eng es_ES
dc.publisher Wiley es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.subject Parkinson Disease es_ES
dc.subject Enfermedad de Parkinson es_ES
dc.subject Mutation es_ES
dc.subject Mutación es_ES
dc.title Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Rossi, Malco Damián. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.
dc.description.fil Fil: Merello, Marcelo. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.
dc.relation.ispartofVOLUME 38
dc.relation.ispartofNUMBER 2
dc.relation.ispartofPAGINATION 286-303
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Nueva Tork
dc.relation.ispartofTITLE Movement disorders
dc.relation.ispartofISSN 1531-8257
dc.type.snrd info:ar-repo/semantics/artículo es_ES

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