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Multicenter Study
. 2025 Jun;12(6):817-822.
doi: 10.1002/mdc3.14354. Epub 2025 Feb 7.

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

Emma N M M von Scheibler  1   2 , Ann Swillen  3   4 , Gabriela M Repetto  5 , Nikolai Gil D Reyes  6 , Anthony E Lang  6 , Connie Marras  6 , Mark L Kuijf  7 , Rob P W Rouhl  7   8 , Agnies M van Eeghen  9   10 , Carlos Juri  11 , Annick Vogels  3 , Thérèse A M J van Amelsvoort  2 , Anne S Bassett  12   13   14   15 , Erik Boot  2   9   15
Affiliations
Multicenter Study

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

Emma N M M von Scheibler et al. Mov Disord Clin Pract. 2025 Jun.

Abstract

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.

Keywords: 22q11.2; Parkinson's disease; epidemiology; genetics; parkinsonism.

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Figures

Figure 1
Figure 1
Kaplan–Meier curve showing the probability of being diagnosed with Parkinson's disease (y‐axis) by a given age (x‐axis) among 856 adults with 22q11.2 deletion syndrome. Censored data (indicated by plus symbols) represent age (at last assessment or at death) for individuals who have not been diagnosed with PD. It should be noted that the number of adults aged 60 years or older was limited (n = 26). PD, Parkinson's disease.
See this image and copyright information in PMC

References

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