Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study

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dc.catalogadoryvc
dc.contributor.authorScheibler, Emma N. M. M., von
dc.contributor.authorSwillen, Ann
dc.contributor.authorRepetto, Gabriela M.
dc.contributor.authorReyes, Nikolai Gil D.
dc.contributor.authorLang, Anthony E.
dc.contributor.authorMarras, Connie
dc.contributor.authorKuijf, Mark L.
dc.contributor.authorRouhl, Rob P. W.
dc.contributor.authorEeghen, Agnies M. van
dc.contributor.authorJuri Clavería, Carlos Andrés
dc.contributor.authorVogels, Annick
dc.contributor.authorAmelsvoort, Therese A. M. J. van
dc.contributor.authorBassett, Anne S.
dc.contributor.authorBoot, Erik
dc.date.accessioned2025-06-18T23:29:59Z
dc.date.available2025-06-18T23:29:59Z
dc.date.issued2025
dc.description.abstractBackground: 22q11.2 deletion syndrome (22q11.2DS) has been associated with increased risk of early-onset Parkinson's disease (PD). Objective: To determine the prevalence and predictors of PD in a large international 22q11.2DS sample. Methods: The sample comprised 856 adults (median age 28 (range 16-76) years; 53.0% female). PD was defined as clinical diagnosis by a neurologist (including bradykinesia, rest tremor and/or rigidity). Age-specific risk and predictors of PD were analyzed using Kaplan-Meier curve and Cox regression. Results: PD was present in 1.8% (95% CI: 0.9-2.6%) of the sample, 3.4% (95% CI: 2.2-4.6%) when including uncertain PD (clinical diagnosis or suspicion, but not meeting all criteria), and 14.0% (95% CI: 6.9-21.0%) of those aged >= 50 years. Median age at motor onset was 45 (range 20-66) years. None of the factors considered were associated with PD. Conclusions: Given high PD prevalence and young onset, we propose periodic motor evaluations from age 40 years in 22q11.2DS.
dc.description.funderStichting Wetenschappelijk Onderzoek, 's Heeren Loo
dc.fechaingreso.objetodigital2025-06-18
dc.format.extent6 páginas
dc.fuente.origenWoS
dc.identifier.doi10.1002/mdc3.14354
dc.identifier.issn2330-1619
dc.identifier.urihttps://doi.org/10.1002/mdc3.14354
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/104693
dc.identifier.wosidWoS_ID: 001415945600001
dc.information.autorucEscuela de Medicina; Juri Clavería, Carlos Andrés; 0000-0002-1939-5976; 7476
dc.language.isoen
dc.nota.accesocontenido completo
dc.publisherWiley Periodicals LLC
dc.revistaMovement Disorders Clinical Practice
dc.rightsacceso abierto
dc.rights.licenseCC BY Atribución Internacional 4.0
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subject22q11.2
dc.subjectGenetics
dc.subjectParkinsonism
dc.subjectParkinson's disease
dc.subjectEpidemiology
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titlePrevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study
dc.typereseña
sipa.codpersvinculados7476
sipa.trazabilidadWoS;2025-02-15
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