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

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dc.contributor.authorVon Scheibler, Emma
dc.contributor.authorSwillen, Ann
dc.contributor.authorRepetto, Gabriela
dc.contributor.authorGil, Nikolai
dc.contributor.authorLang, Anthony
dc.contributor.authorMarras, Connie
dc.contributor.authorKuijf, Mark
dc.contributor.authorRouhl, Rob
dc.contributor.authorVan Eeghen, Agnies
dc.contributor.authorJuri, Carlos
dc.contributor.authorVogels, Annick
dc.contributor.authorVan Amelsvoort, Thérèse
dc.contributor.authorBassett, Anne
dc.contributor.authorBoot, Erik
dc.date.accessioned2026-08-11T22:02:32Z
dc.date.available2026-08-11T22:02:32Z
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.versionVersión Publicada
dc.identifier.citationVon Scheibler ENMM, Swillen A, Repetto GM, Reyes NGD, Lang AE, Marras C, Kuijf ML, Rouhl RPW, van Eeghen AM, Juri C, Vogels A, van Amelsvoort TAMJ, Bassett AS, Boot E. Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study. Mov Disord Clin Pract. 2025 Jun;12(6):817-822. doi: 10.1002/mdc3.14354.
dc.identifier.doihttps://doi.org/10.1002/mdc3.14354
dc.identifier.urihttps://hdl.handle.net/11447/11000
dc.language.isoen
dc.subject22q11.2
dc.subjectParkinson's disease
dc.subjectepidemiology
dc.subjectgenetics
dc.subjectparkinsonism
dc.titlePrevalence of Parkinson’s Disease in 22q11.2 Deletion Syndrome: A Multicenter Study
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceMovement disorders clinical practice.
dspace.entity.typePublication
relation.isAuthorOfPublication98c75303-d87e-4c17-9d27-d9d710229223
relation.isAuthorOfPublication.latestForDiscovery98c75303-d87e-4c17-9d27-d9d710229223

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