22q11.2缺失综合征中帕金森病的患病率：一项多中心研究。
Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study.
作者信息
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
机构信息
Koraal, Maastricht, The Netherlands.
Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands.
出版信息
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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