Browsing by Author "Lang, Anthony E."

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    Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study
    (Wiley Periodicals LLC, 2025) Scheibler, Emma N. M. M., von; Swillen, Ann; Repetto, Gabriela M.; Reyes, Nikolai Gil D.; Lang, Anthony E.; Marras, Connie; Kuijf, Mark L.; Rouhl, Rob P. W.; Eeghen, Agnies M. van; Juri Clavería, Carlos Andrés; Vogels, Annick; Amelsvoort, Therese A. M. J. van; Bassett, Anne S.; Boot, Erik
    Background: 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.