von Scheibler Emma N M M, Swillen Ann, Repetto Gabriela M, Reyes Nikolai Gil D, Lang Anthony E, Marras Connie, Kuijf Mark L, Rouhl Rob P W, van Eeghen Agnies M, Juri Carlos, Vogels Annick, van Amelsvoort Thérèse A M J, Bassett Anne S, Boot Erik
Koraal, Maastricht, The Netherlands.
Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands.
Mov Disord Clin Pract. 2025 Jun;12(6):817-822. doi: 10.1002/mdc3.14354. Epub 2025 Feb 7.
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.
背景：22q11.2缺失综合征（22q11.2DS）与早发性帕金森病（PD）风险增加有关。 目的：确定一个大型国际22q11.2DS样本中PD的患病率和预测因素。 方法：样本包括856名成年人（中位年龄28岁（范围16 - 76岁）；53.0%为女性）。PD定义为由神经科医生进行临床诊断（包括运动迟缓、静止性震颤和/或强直）。使用Kaplan-Meier曲线和Cox回归分析特定年龄的PD风险和预测因素。 结果：样本中1.8%（95%置信区间：0.9 - 2.6%）患有PD，若包括不确定的PD（临床诊断或怀疑，但未满足所有标准），则为3.4%（95%置信区间：2.2 - 4.6%），≥50岁人群中为14.0%（95%置信区间：6.9 - 21.0%）。运动症状出现的中位年龄为45岁（范围20 - 66岁）。所考虑的因素均与PD无关。 结论：鉴于PD患病率高且发病年龄小，我们建议对22q11.2DS患者从40岁起进行定期运动评估。
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