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

被引：0

作者：

von Scheibler, Emma N. M. M. ^{[1
,2
]}

Swillen, Ann ^{[3
,4
]}

Repetto, Gabriela M. ^{[5
]}

Reyes, Nikolai Gil D. ^{[6
,7
]}

Lang, Anthony E. ^{[6
,7
]}

Marras, Connie ^{[6
,7
]}

Kuijf, Mark L. ^{[8
]}

Rouhl, Rob P. W. ^{[8
,9
]}

van Eeghen, Agnies M. ^{[10
,11
]}

Juri, Carlos ^{[12
]}

Vogels, Annick ^{[3
]}

van Amelsvoort, Therese A. M. J. ^{[2
]}

Bassett, Anne S. ^{[13
,14
,15
,16
,17
,18
]}

Boot, Erik ^{[2
,10
,18
]}

机构：

[1] Koraal, Maastricht, Netherlands

[2] Maastricht Univ, Dept Psychiat & Neuropsychol, Maastricht, Netherlands

[3] Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium

[4] Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium

[5] Univ Desarrollo, Ctr Genet & Genom, Fac Med Clin Alemana, Santiago, Chile

[6] Univ Toronto, Edmond J Safra Program Parkinsons Dis, Toronto, ON, Canada

[7] Univ Toronto, Toronto Western Hosp, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, Canada

[8] Maastricht Univ Med Ctr, Dept Neurol, Maastricht, Netherlands

[9] Maastricht Univ, Med Ctr, Acad Ctr Epileptol Kempenhaeghe, Maastricht, Netherlands

[10] s Heeren Loo Zorggroep, Advisium, Berkenweg 11, NL-3818 LA Amersfoort, Netherlands

[11] Univ Amsterdam, Emma Childrens Hosp, Amsterdam, Netherlands

[12] Pontificia Univ Catolica Chile, Fac Med, Dept Gastroenterol, Santiago, Chile

[13] Univ Hlth Network, Toronto Gen Hosp Res Inst, Dept Mental Hlth, Toronto, ON, Canada

[14] Univ Hlth Network, Dept Med, Div Cardiol, Toronto, ON, Canada

[15] Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Toronto, ON, Canada

[16] Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON, Canada

[17] Univ Toronto, Dept Psychiat, Toronto, ON, Canada

[18] Univ Hlth Network, Dalglish Family Clin 22q, Toronto, ON, Canada

来源：

MOVEMENT DISORDERS CLINICAL PRACTICE | 2025年

关键词：

22q11.2; genetics; parkinsonism; Parkinson's disease; epidemiology; IDENTIFICATION; ASSOCIATION;

D O I：

10.1002/mdc3.14354

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页数：6

共 25 条

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