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| DOI | 10.1002/MDC3.14354 | ||||
| Año | 2025 | ||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
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.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | von Scheibler, Emma N. M. M. | - |
Koraal - Países Bajos
Maastricht Univ - Países Bajos Universiteit Maastricht - Países Bajos |
| 2 | Swillen, Ann | - |
Univ Hosp Leuven - Bélgica
Katholieke Univ Leuven - Bélgica KU Leuven– University Hospital Leuven - Bélgica KU Leuven - Bélgica |
| 3 | Repetto, Gabriela M. | - |
Universidad del Desarrollo - Chile
Facultad de Medicina Clínica Alemana Universidad del Desarrollo - Chile |
| 4 | Reyes, Nikolai Gil D. | - |
UNIV TORONTO - Canadá
Toronto Western Hospital - Canadá University of Toronto - Canadá |
| 5 | Lang, Anthony E. | Hombre |
UNIV TORONTO - Canadá
Toronto Western Hospital - Canadá University of Toronto - Canadá |
| 6 | Marras, Connie | - |
UNIV TORONTO - Canadá
Toronto Western Hospital - Canadá University of Toronto - Canadá |
| 7 | Kuijf, Mark L. | - |
Maastricht Univ Med Ctr - Países Bajos
Maastricht Universitair Medisch Centrum+ - Países Bajos |
| 8 | Rouhl, Rob P. W. | - |
Maastricht Univ Med Ctr - Países Bajos
Maastricht Univ - Países Bajos Maastricht Universitair Medisch Centrum+ - Países Bajos |
| 9 | van Eeghen, Agnies M. | - |
s Heeren Loo Zorggroep - Países Bajos
Univ Amsterdam - Países Bajos Advisium - Países Bajos Universiteit van Amsterdam - Países Bajos |
| 10 | Juri, Carlos | - |
Pontificia Universidad Católica de Chile - Chile
Facultad de Medicina - Chile |
| 11 | Vogels, Annick | - |
Univ Hosp Leuven - Bélgica
KU Leuven– University Hospital Leuven - Bélgica KU Leuven - Bélgica |
| 12 | van Amelsvoort, Therese A. M. J. | - |
Maastricht Univ - Países Bajos
Universiteit Maastricht - Países Bajos |
| 13 | Bassett, Anne S. | - |
Univ Hlth Network - Canadá
Ctr Addict & Mental Hlth - Canadá UNIV TORONTO - Canadá Toronto General Hospital Research Institute - Canadá Centre for Addiction and Mental Health - Canadá University of Toronto - Canadá University Health Network - Canadá |
| 14 | Boot, Erik | - |
Maastricht Univ - Países Bajos
s Heeren Loo Zorggroep - Países Bajos Univ Hlth Network - Canadá Universiteit Maastricht - Países Bajos Advisium - Países Bajos University Health Network - Canadá University of Toronto - Canadá |
| Fuente |
|---|
| National Institutes of Health |
| Canadian Institutes of Health Research |
| Michael J. Fox Foundation for Parkinson's Research |
| KU Leuven |
| ZonMw |
| International Parkinson and Movement Disorder Society |
| Parkinson's Foundation |
| Stichting Wetenschappelijk Onderzoek, 's Heeren Loo |
| Stichting Wetenschappelijk Onderzoek |
| Stanford MCHRI |
| Parkinson Canada Clinical Research |
| University Fund Limburg |
| Agradecimiento |
|---|
| AvE is member of European Reference Network ITHACA. |
| This work was supported financially by Stichting Wetenschappelijk Onderzoek, 's Heeren Loo (#2210100). The funder had no role in the design and conduct of the study, preparation of the review, or approval of the manuscript. The data sample from Toronto was supported by the Canadian Institutes of Health Research (CIHR) (PJT\u2010169161, PJT\u2010148924). The authors declare that there are no conflicts of interest relevant to this work. Funding Sources and Conflict of Interest: |
| This work was supported financially by Stichting Wetenschappelijk Onderzoek, 's Heeren Loo (#2210100). The funder had no role in the design and conduct of the study, preparation of the review, or approval of the manuscript. The data sample from Toronto was supported by the Canadian Institutes of Health Research (CIHR) (PJT\u2010169161, PJT\u2010148924). The authors declare that there are no conflicts of interest relevant to this work. Funding Sources and Conflict of Interest: |