4.5 Letter

Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations

Journal

PARKINSONISM & RELATED DISORDERS
Volume 73, Issue -, Pages 16-18

Publisher

ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2020.03.008

Keywords

Parkinson's disease; Genetics; GBA; Gaucher's disease

Funding

  1. NINDS NIH HHS [R01 NS078086, U54 NS100693, U54 NS110435, P50 NS072187] Funding Source: Medline

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We aimed to replicate a recent study that found a high frequency of the GBA p.K198E mutant in Colombian patients with PD. We identified the p.K198E substitution at a lower frequency in our cohort of Colombians with PD (2.1%), and this was not significantly different than controls (1.7%, P = 0.86) emphasizing the need for larger genetic studies in Latin America.

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