Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study
Journal
Movement Disorders Clinical Practice
ISSN
2330-1619
Date Issued
2025-02-07
Author(s)
Emma N.M.M. von Scheibler
Ann Swillen
Nikolai Gil D. Reyes
Anthony E. Lang
Connie Marras
Mark L. Kuijf
Rob P.W. Rouhl
Agnies M. van Eeghen
Carlos Juri
Annick Vogels
Thérèse A.M.J. van Amelsvoort
Anne S. Bassett
Erik Boot
Type
journal-article
Abstract
Background deletion syndrome (22q11.2DS) has been associated with increased risk of early‐onset Parkinson's disease (PD).</jats:p></jats:sec><jats:sec><jats:title>Objective</jats:title><jats:p>To determine the prevalence and predictors of PD in a large international 22q11.2DS sample.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>Given high PD prevalence and young onset, we propose periodic motor evaluations from age 40 years in 22q11.2DS