Objective: To calculate the pooled prevalence of Huntington’s Disease in Latin America.

Background: Latin America has played a crucial role in advancing our understanding of the clinical and genetic architecture of Huntington’s disease (HD). However, previous global reviews include limited data from Latin America. It is possible that English-based medical search engines may not capture all the relevant studies in other languages.

Method: We searched databases in Spanish, Portuguese, and English (MEDLINE, EMBASE, SciELO, and Biblioteca Virtual en Salud). Our search strategy was not restricted to specific epidemiological terms. Conversely, we used the names of every country in Latin America in English-based search engines to ensure we found any study that had molecular ascertainment and provided general epidemiological information or subpopulation data (i.e., indigenous populations, cluster regions, juvenile or late-onset HD). Additionally, we contacted experts across the region to identify missed studies, and the gray literature was reviewed.

Results: The search strategy yielded 791 citations; 24 studies met inclusion criteria, representing 12 out of 36 countries. The overall pooled prevalence was 0.64 per 100,000 (95% confidence interval CI 0.34 to 1.21), for studies examining cluster regions it was 54 per 100,000 (95% CI 34.79 to 84.92), for studies exploring juvenile HD it was 8.7% (95% CI 6.6% to 11.4%), and 5.9% (95% CI 3.9 to 8.9%) for late-onset HD. Prevalence was higher for Mexico, Peru, and Brazil compared to the other countries. However, there were no significant differences between Central America and the Caribbean versus South America.

Conclusion: The prevalence of HD appears to be similar across Latin American regions. However, we infer that our findings are underestimates, which could be explained in part by limited research, underdiagnosis of HD due to limited access to molecular testing and the availability of neurologists and movement disorders specialists in these regions. Future research should focus on identifying pathways to improve access to molecular testing and education. Additionally, more studies are needed to understand differences in HD prevalence among different ancestral groups in Latin America.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/epidemiology-of-huntingtons-disease-in-latin-america-a-systematic-review-and-meta-analysis/