Category: Parkinson's Disease: Genetics
Objective: To assess the frequency of G2019S, R1441G/C/H, I2020T and Y1699C mutations in a Costa Rican cohort of Parkinson’s disease (PD) cases and controls.
Background: This is the first study that reports on risk factors, clinical presentation and genetic mutations in a Costa Rican cohort of patients with PD.
Method: We recruited 118 PD patients (68 males, 50 females) and 97 controls (28 males, 69 females). Clinical presentation and previous exposure to risk and protective factors was obtained. Motor disability was evaluated by means of the Unified Parkinson’s Disease Rating Scale (UPDRS), Hoehn & Yahr (H&Y) and Schwab & England (S&E) scales and cognitive status with the Montreal Cognitive Assessment (MoCA) test.
Results: Most frequent initial symptomatology included: resting tremor (71.30%), rigidity (24.07%) and pain (10.19%). Hiposmia, sleep disorders and depressive/anxious mood were seen in more than 50% of the cases. Standardized scales revealed a mild to moderate severity of the disease. Up to 30% of our patients, mostly men, had exposure to risk factors including pesticides (29.57%) and herbicides (30.43%). Concerning protective factors, significantly more men reported being exposed to tobacco compared to women (53.73% vs 18.75%, p<0.001) and over 90% of the sample consumed coffee. Half of the sample reported performing regular physical activity (55.65%) and this correlated significantly with reduced UPDRS III score and less requirements of levodopa. We did not find any of the mutations assessed in the study participants.
Conclusion: We did not find any of the mutations in the study participants, however we were able to describe clinical manifestations alongside with prevalence of exposure to risk and protective factors for PD. Mutations in the LRRK2 gene may be rare causes of PD among Costa Ricans, hence not useful as a screening test in the diagnostic approach of PD patients.
To cite this abstract in AMA style:A. Hernandez-Guillen, T. Lobo-Prada, J. Ruiz-Martinez, A. Gorostidi-Pagola, Z. Gan-Or, K. Carazo-Cespedes, J. Fornaguera-Trias, G. Torrealba-Acosta. First clinical and genetic analysis of LRRK2 G2019S, R1441G/C/H/, I2020T and Y1699C mutations in Costa Rican patients with Parkinson’s disease [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/first-clinical-and-genetic-analysis-of-lrrk2-g2019s-r1441g-c-h-i2020t-and-y1699c-mutations-in-costa-rican-patients-with-parkinsons-disease/. Accessed December 7, 2023.
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