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.
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页数:6
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