Objective: To describe the epidemiological and clinical characteristics of patients with cerebellar ataxia in a Movement Disorders outpatient clinic at a public reference center in Northeastern Brazil.

Background: Cerebellar ataxia has significant epidemiological and symptomatic variability. Most studies in Brazil focus on the South/Southeast, limiting generalizability due to ethnic and sociodemographic differences. Given the complexity of cerebellar ataxias, investigation must aim to identify key diagnostic findings and rule out treatable causes. Age of onset, disease progression, clinical signs, and imaging provide crucial insights. Progressive forms lead to irreversible functional decline, dependence and fall risk. Rehabilitation is fundamental to care.

Method: All patients with cerebellar ataxia as the predominant symptom with more than one consultation in the past 2 years were eligible. We screened medical records for sociodemographic data, disease history, symptom severity, neuroimaging, genetic testing, and multidisciplinary follow-up. Study variables were categorized as absolute frequency or relative percentage.

Results: Sixty-eight patients were enrolled; 82.35% had defined/presumed genetic cause; 13.23% had acquired cause; and 4.41% had no identified etiology. Among genetic cases, 51.79% had an identified pathological variant. SCA 3 was the most common (65.52%), followed by SCA 2 and Friedreich ataxia (17.24% each). In acquired ataxias, alcoholic cerebellar degeneration (33.33%) and MSA-C (22.22%) were the most common. Hereditary cases tended to have earlier onset and higher frequency of extracerebellar (pyramidal, extrapyramidal, peripheral, cognitive, psychiatric, and non-neurological) symptoms. The most common neuroimage finding was cerebellar atrophy (60.29%). Mean SARA score was 17.6. Thirty-one patients (45.59%) had a fall in the preceding year, and 23 (33.82%) lacked non-pharmacological therapy.

Conclusion: This study reported the main sociodemographic and clinical characteristics of patients with cerebellar ataxia at our outpatient clinic. Clinical data was mostly in line with literature despite the scarcity of epidemiological studies in Northeastern Brazil. The study highlighted challenges in diagnosis and follow-up, particularly regarding access to high-cost diagnostic tests and difficulties obtaining complementary therapies in the Brazilian public healthcare system.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-and-epidemiological-characterization-of-patients-with-cerebellar-ataxia-in-a-reference-center-in-northeastern-brazil/