Objective: To evaluate the ambulatory prognosis and fall-related events in patients with spinocerebellar ataxia type 6 (SCA6) in a real-world clinical setting.

Background: SCA6 is generally considered a slowly progressive cerebellar ataxia. However, detailed data on long-term ambulatory outcomes in routine clinical practice remain limited.

Method: We retrospectively analyzed 17 patients with genetically confirmed SCA6 (5 men and 12 women) followed at our outpatient clinic. Clinical data including age at onset, disease duration, ambulatory status, and history of falls and fall-related injuries were reviewed. Late-onset SCA6 was defined as disease onset at ≥60 years of age.

Results: The mean age at onset was 53.6 years and the mean disease duration was 10.4 years. Nine patients (53%) had late-onset disease. At the time of evaluation, 7 patients were able to walk independently outdoors, 2 were unable to walk outdoors, and 8 were wheelchair-dependent. Among the wheelchair-dependent patients, the time from disease onset to wheelchair dependence ranged from 4 to 11 years (median 7.5 years). Falls were reported in 7 patients (41%), including 4 wheelchair users. Fall-related injuries occurred in 2 patients (shoulder dislocation in one and lumbar compression fracture in one).

Conclusion: Although SCA6 is typically regarded as a slowly progressive disorder, substantial decline in ambulatory function may occur within approximately 10 years after disease onset in some patients. Considerable heterogeneity in disease progression was observed, with some patients maintaining ambulatory ability for prolonged periods.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/ambulatory-prognosis-in-spinocerebellar-ataxia-type-6-a-single-center-cohort-study/