Objective: This study aims to assess the frequency, distribution and the minimum prevalence of monogenic Parkinsonism in Latin America (LA)

Background: The prevalence of monogenic Parkinson’s disease (PD) can vary depending on the specific genetic mutation and the population being studied. While there has been significant research in European and North American populations, there is a lack of data on the prevalence of monogenic PD in other populations, including those in LA.

Method: We performed a systematic literature search using a structured search mechanism in Pubmed, EMBASE, WEB of Science and LILACS until August 2022. We included original articles that reported hereditary parkinsonism genes, according to the MDS update on nomenclature of genetic movement disorders, in LA population, written in English, Spanish or Portuguese. Independent reviewers extracted the data, and discrepancies were assessed by another investigator. The Cochran’s Q and I2 tests were used to quantify heterogeneity. Meta-regression, publication bias tests and sensitivity analysis regarding study quality were also utilized.

Results: The review included 73 studies among 3014 screened, from 16 countries in LA, with Brazil (49.3%) having the highest number of publications, followed by Colombia (21.6%), Mexico  and Argentina (10.8%). The majority of the studies were mutational screening studies, and pathogenic mutations were identified in 19 different genes among 7,616 LA patients. The minimum prevalence of monogenic parkinsonism was 3.09%  in all patients from high-quality studies, and 4.61%  for early-onset parkinsonism. The prevalence of LRRK2 was 1.14% (CI 95% 0.7 – 1.66), of PARKIN  3.8%, and GBA 5.84% . Only one patient with an SNCA mutation was reported among all studies, and no VPS35, CHCHD2, or DJ1 was found. The most frequent ‘atypical parkinsonism gene’ reported was SLC20A2.

Conclusion: Our study  found an overall prevalence of 3.09% for monogenic parkinsonism, with GBA, LRRK2, and PARKIN being the most frequently mutated genes. The underrepresentation of Latin America in PD genetics research highlights the need for increased efforts to understand the genetic factors contributing to PD in these populations. Future studies in this field will lead to more personalized care and targeted therapies for those affected by the disease.

This abstract is going to be presented in the III Brazilian neurogenetic congress, from 9-11 of march of 2023

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MDS Abstracts - https://www.mdsabstracts.org/abstract/monogenic-parkinsonism-in-latin-america-systematic-review-and-meta-analysis/