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Article Abstract
Background: Spinocerebellar ataxia type 1 (SCA1) is characterised by motor and cognitive symptoms. Sex-specific differences in disease presentation and progression remain poorly understood. This study investigates the role of sex in clinical-demographic and motor/cognitive outcomes in SCA1.
Methods: This single-centre, longitudinal observational cohort study was conducted at the University Hospital of Ferrara between 2021 and 2024. Consecutively, genetically confirmed SCA1 patients were evaluated at baseline and after 24±6 months. Assessments included comprehensive neuropsychological testing and auditory event-related potentials (aERPs). Motor function was evaluated using the Scale for Assessment and Rating of Ataxia (SARA).
Results: Sixteen SCA1 patients (9 males, seven females) were evaluated at baseline, with 10 patients (5 males, five females) completing follow-up. Even if most cognitive functions were preserved in both sexes at baseline, males showed worse performance in emotion attribution tasks than females (42.8 ± 8.5 vs. 53.1 ± 5.7, r = 0.63). Over time, both sexes showed slightly worsening cognitive performance, although not statistically significant, with males demonstrating deficits in verbal fluency (p = 0.036) and emotion attribution (p = 0.048). In the same group, motor impairment worsened at follow-up, though not significantly. aERPs revealed no differences between sexes at follow-up.
Conclusion: Sex may influence cognitive outcomes in SCA1, with male patients showing greater vulnerability to cognitive decline. aERPs did not show significant modifications. These findings highlight the importance of considering sex-specific approaches in the clinical management of SCA1 patients and the higher values of a comprehensive neuropsychological assessment compared to the neurophysiological approach with aERPs to reach these slight changes over time.
Clinical Trial Number: Not applicable.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12405387 | PMC |
| http://dx.doi.org/10.1007/s12311-025-01881-4 | DOI Listing |
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