Hereditary Ataxias in Argentina

Abstract

Hereditary or genetic ataxias are hundreds of disorders characterized by large phenotypic, genetic, and epidemiological heterogeneity. In Argentina, 35 genetic ataxias have been identified, with SCA1 (ATX-ATXN1), SCA2 (ATX-ATXN2), SCA3 (ATX-ATXN3), and Friedreich ataxia (ATX-FXN) as the most prevalent causes, reflecting the epidemiology of most Western European countries, the main origin of immigration to the country. Genetic diagnostic studies of ataxia cohorts in Argentina have found high rates of undiagnosed patients, ranging from 65 to 82%. Deep phenotyping, comprehensive genetic testing, and knowledge of the prevalence of different genetic ataxias are essential for an accurate diagnostic and treatment approach in clinical practice. This narrative review proposes a targeted, tiered genetic diagnostic approach for undiagnosed patients based on the Argentinian epidemiological and healthcare system data. Future national efforts should support comprehensive screening studies on ataxia cohorts, including testing for repeat expansions in RFC1 and FGF14 genes. In addition, establishing a trial-ready patient registry for genetic ataxias, enhancing networking with international clinical and research initiatives, and developing specialized centers for interdisciplinary care of genetic ataxia patients are recommended.