Fabiana Colucci, Sara Stefanelli, Elena Contaldi, Andrea Gozzi, Maura Pugliatti, Pietro Antenucci, Jay Guido Capone, Daniela Gragnaniello, Mariachiara Sensi
{"title":"脊髓小脑性共济失调1型的性别差异：临床表现和进展。","authors":"Fabiana Colucci, Sara Stefanelli, Elena Contaldi, Andrea Gozzi, Maura Pugliatti, Pietro Antenucci, Jay Guido Capone, Daniela Gragnaniello, Mariachiara Sensi","doi":"10.1007/s12311-025-01881-4","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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).</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"127"},"PeriodicalIF":2.4000,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12405387/pdf/","citationCount":"0","resultStr":"{\"title\":\"Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression.\",\"authors\":\"Fabiana Colucci, Sara Stefanelli, Elena Contaldi, Andrea Gozzi, Maura Pugliatti, Pietro Antenucci, Jay Guido Capone, Daniela Gragnaniello, Mariachiara Sensi\",\"doi\":\"10.1007/s12311-025-01881-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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).</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>\",\"PeriodicalId\":50706,\"journal\":{\"name\":\"Cerebellum\",\"volume\":\"24 5\",\"pages\":\"127\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2025-07-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12405387/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cerebellum\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s12311-025-01881-4\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"NEUROSCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cerebellum","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12311-025-01881-4","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression.
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.
期刊介绍：
Official publication of the Society for Research on the Cerebellum devoted to genetics of cerebellar ataxias, role of cerebellum in motor control and cognitive function, and amid an ageing population, diseases associated with cerebellar dysfunction.
The Cerebellum is a central source for the latest developments in fundamental neurosciences including molecular and cellular biology; behavioural neurosciences and neurochemistry; genetics; fundamental and clinical neurophysiology; neurology and neuropathology; cognition and neuroimaging.
The Cerebellum benefits neuroscientists in molecular and cellular biology; neurophysiologists; researchers in neurotransmission; neurologists; radiologists; paediatricians; neuropsychologists; students of neurology and psychiatry and others.
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