Objective: To determine the occurrence and frequency of genetic ataxias in Argentina.

Background: Genetic ataxias comprise hundreds of disorders with significant phenotypic, genetic, and epidemiological heterogeneity. Deep phenotyping, comprehensive genetic testing, and knowledge of their occurrence and frequency are essential for accurate diagnosis and treatment in clinical practice. Additionally, establishing a trial-ready patient registry, strengthening international clinical and research collaborations, and developing specialized centers for interdisciplinary care are key priorities.

Method: We analyzed our institutional database and conducted a PubMed literature search from inception to November 2024 to identify case reports, case series, and population screening studies reporting genetic ataxia cases in Argentina. We calculated mean frequencies using data from population screening studies.

Results: A total of 35 types of genetic ataxias have been identified in Argentina, with SCA1 (ATX-ATXN1), SCA2 (ATX-ATXN2), SCA3 (ATX-ATXN3), and Friedreich ataxia (ATX-FXN) being the most prevalent. Population screening studies of ataxia cohorts have reported high rates of undiagnosed patients, ranging from 65% to 82%. Based on Argentinian epidemiological and healthcare system data, we propose a targeted, tiered genetic diagnostic approach for undiagnosed cases.

Conclusion: The occurrence and frequency of genetic ataxias in Argentina mirror those of Western European countries, the main source of immigration to the region. Clinicians may consider the proposed genetic diagnostic approach for routine clinical practice. Future national efforts should support comprehensive population screening studies, including testing for repeat expansions in RFC1 and FGF14, to reduce the high rate of undiagnosed cases.

Figure 1. Frequency of genetic ataxias

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-ataxias-in-argentina/