Objective: To describe the genetic profile of patients with cerebellar ataxias followed in a neurogenetics reference center in Brazil

Background: Cerebellar ataxias comprise a heterogeneous group of neurodegenerative disorders, often associated with genetic mutations affecting motor coordination and balance. Spinocerebellar Ataxias (SCA) and other hereditary ataxias are among the most frequent causes.

Method: This cross-sectional study was conducted with patients evaluated for hereditary movement disorders in Bahia, Brazil. The clinical and genetic profile data were collected through medical record reviews.

Results: A total of 19 patients with cerebellar ataxia were identified, with 7 cases of undetermined etiology. All of the identified types are of genetic cause. The most frequent diagnosis was Spinocerebellar Ataxia Type 3 (SCA3), with 3 confirmed and 1 suspected case. Other diagnoses included Friedreich’s Ataxia, SCA2, SPG7, Ataxia with Oculomotor Apraxia Type 2 (AOA2), SCAR8 and Ataxia due to Vitamin E Deficiency. Genetic tests confirmed expansions of CAG repeats in the ATXN3 gene (for SCA3), ranging from 24 to 67 repeats. Some patients are still awaiting genetic testing. The mean age of the patients was 45 years (ranging from 19 to 64 years).

Conclusion: Genetic testing played a crucial role in confirming the diagnosis for most cases, serving as an essential tool for clinical management. The predominance of SCA3 reflects its relevance among hereditary ataxias. Expanding access to genetic testing and multidisciplinary follow-up may improve early diagnosis and tailored therapeutic approaches for these patients.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-profile-of-cerebellar-ataxias-in-patients-from-a-reference-center-in-brazil/