Mutations within the GBA gene are associated with early onset PD. PD patients with GBA mutations have a higher incidence of cognitive decline. GBA pathogenic variants have been identified in 5-10% of individuals with PD and are the strongest risk factor for the disease. Mutation frequencies vary between populations and a recent study found a GBA mutation in 10% of Colombian patients with PD. The majority of these patients carried the K198E mutation, which is far less prevalent in previous reports of other more diverse populations with relatively low Latin American representation.

We performed genetic screening on samples from 200 Colombians (Controls = 58, PD = 142) and 67 Hispanics with PD. Screening consisted of Sanger sequencing of GBA K198E.

We identified the K198E mutation in Colombians with PD (n = 3, 2.1%) and controls (n = 1, 1.7%). This mutation was not present in our American Hispanic cohort.

Our findings add to the relatively sparse amount of information regarding PD genetics in Latin America. Our cohort of Colombians was larger than a previously described cohort of Colombians with PD that showed K198E prevalence three times higher than ours. This suggests that there may be substantial heterogeneity of contributing heritages and underscores the need for more large scale genetic studies in Latin America.