dc.creator | Vollstedt, Eva Juliane | es |
dc.creator | Schaake, Susen | es |
dc.creator | Lohmann, Katja | es |
dc.creator | Padmanabhan, Shalini | es |
dc.creator | Brice, Alexis | es |
dc.creator | Lesage, Suzanne | es |
dc.creator | Mir Rivera, Pablo | es |
dc.creator | Klein, Christine | es |
dc.date.accessioned | 2024-02-05T14:44:28Z | |
dc.date.available | 2024-02-05T14:44:28Z | |
dc.date.issued | 2023 | |
dc.identifier.citation | Vollstedt, E.J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S.,...,Klein, C. (2023). Embracing monogenic Parkinson's disease: the MJFF global genetic PD cohort. Movement Disorders, 38 (2), 286-303. https://doi.org/10.1002/mds.29288. | |
dc.identifier.issn | 0885-3185 | es |
dc.identifier.uri | https://hdl.handle.net/11441/154604 | |
dc.description.abstract | 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 trialready 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 qualitycontrolled 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. | es |
dc.format | application/pdf | es |
dc.format.extent | 18 p. | es |
dc.language.iso | eng | es |
dc.publisher | Wiley | es |
dc.relation.ispartof | Movement Disorders, 38 (2), 286-303. | |
dc.rights | Atribución 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | Parkinson’s disease | es |
dc.subject | Monogenic PD | es |
dc.title | Embracing monogenic Parkinson's disease: the MJFF global genetic PD cohort | es |
dc.type | info:eu-repo/semantics/article | es |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Instituto de Biomedicina de Sevilla (IBIS) | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Medicina | es |
dc.relation.publisherversion | https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29288 | es |
dc.identifier.doi | 10.1002/mds.29288 | es |
dc.journaltitle | Movement Disorders | es |
dc.publication.volumen | 38 | es |
dc.publication.issue | 2 | es |
dc.publication.initialPage | 286 | es |
dc.publication.endPage | 303 | es |