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

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.