The study will consist of a prospective observation of subjects in a natural history design. Disease progression will be monitored through clinical scales and video-oculography. Participants will be stratified in three groups: ataxic carriers, pre-ataxic carriers and non-carriers (controls). The following clinical scales will be applied in all subjects at baseline and at months 12 and 24: SARA, SCAFI, CCFS, NESSCA, INAS and ICARS. Oculomotor function will be registered using video-oculography (EyeSeeCam, InterAcoustics) at the same time points. Progression rates, effect sizes and responsiveness to change will be established for all parameters and results will be compared between candidate biomarkers.
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Change in vestibulo-ocular reflex gain regression slope (VORr)
Timeframe: 24 months
Change in vertical smooth pursuit gain
Timeframe: 24 months
Change in slow-phase velocity of gaze evoked nystagmus (SPV-GE)
Timeframe: 24 months
Change in the slope of peak duration versus amplitude of volitional vertical saccades
Timeframe: 24 months
Change in the slope of peak duration versus amplitude of reflexive vertical saccades
Timeframe: 24 months
Change in slow-phase velocity of central nystagmus (SPV-C)
Timeframe: 24 months
Change in Neurological Examination Score for Spinocerebellar Ataxia (NESSCA)
Timeframe: 24 months
Change in SCA Functional Index (SCAFI)
Timeframe: 24 months
Change in International Cooperative Ataxia Rating Scale (ICARS)
Timeframe: 24 months
Change in Inventory of Non-Ataxia Symptoms (INAS) count
Timeframe: 24 months
Change in Composite Cerebellar Functional Severity Score (CCFS)
Timeframe: 24 months