Ataxias are one of the most frequent complaints in Neurogenetics units worldwide. Currently, more than 50 subtypes of spinocerebellar ataxias and more than 60 recessive ataxias are recognized. We conducted an 11-year prospective, observational, analytical study in order to estimate the frequency of pediatric and adult genetic ataxias in Argentina, to describe the phenotypes of this cohort and evaluate the diagnostic yield of the algorithm used in our unit. We included 334 ataxic patients. Our diagnostic approach was successful in one-third of the cohort. A final molecular diagnosis was reached in 113 subjects. This rate is significantly higher in the subgroup of patients with a positive family history, where the diagnostic yield increased to 55%. The most prevalent dominant and recessive ataxias in Argentina were SCA-2 (36% of dominant ataxias) and FA (62% of recessive ataxias), respectively. Next generation sequencing-based assays were diagnostic in the 65% of the patients requiring these tests. These results provide relevant epidemiological information, bringing a comprehensive knowledge of the most prevalent subtypes of genetic ataxias and their phenotypes in our territory and laying the groundwork for rationally implementing genetic diagnostic programs for these disorders in our country.

共济失调是全世界神经遗传学部门最常见的不适之一。目前，已经认识到超过50种亚型的脊髓小脑共济失调和60多种隐性共济失调。我们进行了为期11年的前瞻性，观察性，分析性研究，目的是估计阿根廷的儿科和成年遗传性共济失调的频率，以描述该队列的表型并评估本单元中使用的算法的诊断率。我们纳入了334名共济失调患者。我们的诊断方法在该队列的三分之一中是成功的。在113位受试者中完成了最终的分子诊断。在家族史呈阳性的患者亚组中，该比率明显更高，诊断率提高到55％。在阿根廷，最普遍的显性共济失调和隐性共济失调分别是SCA-2（占显性共济失调的36％）和FA（隐性共济失调的62％）。下一代基于测序的测定法在需要这些测试的患者中占65％。这些结果提供了有关的流行病学信息，使我们全面了解了遗传共济失调中最普遍的亚型及其表型，为在我国合理实施针对这些疾病的遗传诊断程序奠定了基础。