Person:
Repetto, Gabriela

Last Name

Repetto

Gabriela

Now showing 1 - 1 of 1

Prevalence of Parkinson’s Disease in 22q11.2 Deletion Syndrome: A Multicenter Study
(2025) Von Scheibler, Emma; Swillen, Ann; Repetto, Gabriela; Gil, Nikolai; Lang, Anthony; Marras, Connie; Kuijf, Mark; Rouhl, Rob; Van Eeghen, Agnies; Juri, Carlos; Vogels, Annick; Van Amelsvoort, Thérèse; Bassett, Anne; 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.