Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression.

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

SUBMITTER: Colucci F 

PROVIDER: S-EPMC12405387 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature