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- Study Description
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Important Links and InformationThis study is a pilot study designed to describe the clinical and genetic landscape of Parkinson's disease in Costa Rica. While most genetic studies have been conducted on Europeans, few have examined Parkinson's disease in Costa Ricans. 118 patients and 97 controls were recruited at the Movement Disorders Unit of the Department of Neurology, Hospital San Juan de Dios, Caja Costarricense de Seguro Social, Costa Rica. Familial Parkinson's disease genes were sequenced using Next-Generation Sequencing. We also measured and obtained different sociodemographic and clinical information.
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- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
- Study Design:
- Case-Control
- Study Type:
- Case-Control
- Total number of consented subjects: 176
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
All patients fulfilled Gelb criteria for the clinical diagnosis of PD; while controls had no signs or personal history of any neurodegenerative disease. All subjects are unrelated, resided, and were originated from Costa Rica.
- Study History
Costa Rica conducted its first genetic evaluation of patients with Parkinson's disease (PD) starting in 2011 through a project led by Dr. Gabriel Torrealba-Acosta and Dr. Jaime Fornaguera-Trías, funded by the Vicerrectoria de Investigation Research Fund, Universidad de Costa Rica at the Movement Disorders Unit of the Department of Neurology, Hospital San Juan de Dios, Caja Costarricense de Seguro Social. In 2018, familial Parkinson's disease genes were sequenced using Next-Generation Sequencing at McGill University under the supervision of Dr. Ziv Gan-Or; data were analyzed and summarized by Eric Yu.
- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Parkinson Disease
- Authorized Data Access Requests
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- Study Attribution
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