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

Parkinsonism Relat Disord

Movement Disorders Clinic, Hospital Universitario San Ignacio, Bogota, Colombia; School of Medicine, Pontificia Universidad Javeriana, Bogotá, Colombia; Clínica Universitaria Colombia, Bogotá, Colombia.

Published: April 2020

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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528207PMC
http://dx.doi.org/10.1016/j.parkreldis.2020.03.008DOI Listing

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