Objective: To characterize non-motor symptoms (NMS) in patients with Adult-Onset cerebellar ataxia (AOCA) to improve phenotypic characterization and inform targeted therapeutic approaches.

Background: AOCA comprises a heterogeneous group of hereditary and sporadic disorders characterized by progressive cerebellar dysfunction. While motor features define these conditions, NMS are increasingly recognized as contributors to disease burden.

Method: We conducted a retrospective review of records from a tertiary Movement Disorders Clinic between 2000 and 2020. Adults with ataxia as their primary complaint were identified and those with progressive cerebellar ataxia with age of onset after 18 were included, regardless of genetic diagnosis. Cases of multiple system atrophy or secondary causes of ataxia were excluded. NMS were systematically recorded, including pain, sleep disturbances, cognitive impairment, and neuropsychiatric symptoms, and compared across diagnostic categories.

Results: We identified 145 patients (58.6% male; mean age at diagnosis of 49.9 years). Autosomal dominant spinocerebellar ataxias (SCAs) accounted for 28.3% of cases, while 60.7% were classified as hereditary or sporadic AOCA.  The most common NMS were mood disorders (28.9%), cognitive impairment (24.1%), and pain (18.6%). Depression and anxiety were more frequently documented in patients with SCAs compared to non-SCA ataxias (41.5% vs. 23.9%, p=0.03). An inverse correlation was observed between depression/anxiety and age at diagnosis (r=-0.22, p=0.007), independent of sex and inheritance pattern.

Conclusion: Non-motor symptoms are common in AOCA and warrant routine clinical assessment. Mood disorders should be carefully screened for in patients with earlier disease onset, given their strong inverse association with age at diagnosis.

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References: Bruno. V, Abo AlSamh D, Karnik V, Furtado S. The Non-Motor and Extra-Cerebellar Motor Spectrum of Adult-Onset Genetic and Sporadic Cerebellar Ataxias. [Conference Presentation Abstract]. MDS PAS Congress, Cartegena, February 2024.

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