Colucci Fabiana, Stefanelli Sara, Contaldi Elena, Gozzi Andrea, Pugliatti Maura, Antenucci Pietro, Capone Jay Guido, Gragnaniello Daniela, Sensi Mariachiara
Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy.
Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Cerebellum. 2025 Jul 10;24(5):127. doi: 10.1007/s12311-025-01881-4.
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.
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).
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.
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.
Not applicable.
1型脊髓小脑共济失调（SCA1）的特征是运动和认知症状。疾病表现和进展中的性别差异仍知之甚少。本研究调查了性别在SCA1临床人口统计学和运动/认知结果中的作用。
本单中心纵向观察队列研究于2021年至2024年在费拉拉大学医院进行。连续纳入经基因确诊的SCA1患者，在基线时和24±6个月后进行评估。评估包括全面的神经心理学测试和听觉事件相关电位（aERP）。使用共济失调评估和评分量表（SARA）评估运动功能。
16例SCA1患者（9例男性，7例女性）在基线时接受了评估，10例患者（5例男性，5例女性）完成了随访。即使在基线时两性的大多数认知功能都得以保留，但男性在情感归因任务中的表现比女性差（42.8±8.5对53.1±5.7，r=0.63）。随着时间的推移，两性的认知表现均略有恶化，尽管无统计学意义，男性在语言流畅性（p=0.036）和情感归因（p=0.048）方面表现出缺陷。在同一组中，随访时运动障碍有所恶化，但不显著。aERP显示随访时两性之间无差异。
性别可能影响SCA1的认知结果，男性患者更容易出现认知衰退。aERP未显示出显著变化。这些发现强调了在SCA1患者的临床管理中考虑性别特异性方法的重要性，以及与使用aERP的神经生理学方法相比，全面神经心理学评估对于发现随时间推移的这些细微变化具有更高的价值。
不适用。
