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

Emma N.M.M. von Scheibler; Ann Swillen; Gabriela M. Repetto; 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

doi:10.1002/mdc3.14354

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

Emma N.M.M. von Scheibler, Ann Swillen, Gabriela M. Repetto, 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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	817-822
Number of pages	6
Journal	Movement Disorders Clinical Practice
Volume	12
Issue number	6
Early online date	1 Jan 2025
DOIs	https://doi.org/10.1002/mdc3.14354
Publication status	Published - Jun 2025

Keywords

22q11.2
epidemiology
genetics
Parkinson's disease
parkinsonism

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von Scheibler, E. N. M. M., Swillen, A., Repetto, G. M., Reyes, N. G. D., Lang, A. E., Marras, C., Kuijf, M. L., Rouhl, R. P. W., van Eeghen, A. M., Juri, C., Vogels, A., van Amelsvoort, T. A. M. J., Bassett, A. S., & Boot, E. (2025). Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study. Movement Disorders Clinical Practice, 12(6), 817-822. https://doi.org/10.1002/mdc3.14354

@article{cd3b909782c9459882d5c35f2ec703bd,

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

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, epidemiology, genetics, Parkinson's disease, parkinsonism",

author = "\{von Scheibler\}, \{Emma N.M.M.\} and Ann Swillen and Repetto, \{Gabriela M.\} and Reyes, \{Nikolai Gil D.\} and Lang, \{Anthony E.\} and Connie Marras and Kuijf, \{Mark L.\} and Rouhl, \{Rob P.W.\} and \{van Eeghen\}, \{Agnies M.\} and Carlos Juri and Annick Vogels and \{van Amelsvoort\}, \{Th{\'e}r{\`e}se A.M.J.\} and Bassett, \{Anne S.\} and Erik Boot",

note = "Publisher Copyright: {\textcopyright} 2025 The Author(s). Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.",

year = "2025",

month = jun,

doi = "10.1002/mdc3.14354",

language = "English",

volume = "12",

pages = "817--822",

journal = "Movement Disorders Clinical Practice",

issn = "2330-1619",

publisher = "Wiley",

number = "6",

}

von Scheibler, ENMM, Swillen, A, Repetto, GM, Reyes, NGD, Lang, AE, Marras, C, Kuijf, ML , Rouhl, RPW, van Eeghen, AM, Juri, C, Vogels, A, van Amelsvoort, TAMJ, Bassett, AS & Boot, E 2025, 'Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study', Movement Disorders Clinical Practice, vol. 12, no. 6, pp. 817-822. https://doi.org/10.1002/mdc3.14354

TY - JOUR

T1 - Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome

T2 - A Multicenter Study

AU - von Scheibler, Emma N.M.M.

AU - Swillen, Ann

AU - Repetto, Gabriela M.

AU - Reyes, Nikolai Gil D.

AU - Lang, Anthony E.

AU - Marras, Connie

AU - Kuijf, Mark L.

AU - Rouhl, Rob P.W.

AU - van Eeghen, Agnies M.

AU - Juri, Carlos

AU - Vogels, Annick

AU - van Amelsvoort, Thérèse A.M.J.

AU - Bassett, Anne S.

AU - Boot, Erik

PY - 2025/6

Y1 - 2025/6

N2 - 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.

AB - 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.

KW - 22q11.2

KW - epidemiology

KW - genetics

KW - Parkinson's disease

KW - parkinsonism

U2 - 10.1002/mdc3.14354

DO - 10.1002/mdc3.14354

M3 - Article

SN - 2330-1619

VL - 12

SP - 817

EP - 822

JO - Movement Disorders Clinical Practice

JF - Movement Disorders Clinical Practice

IS - 6

ER -

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

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