Pre-ataxic Changes of Clinical Scales and Eye Movement in Machado-Joseph Disease: BIGPRO Study

摘要: Background The pathological burden of spinocerebellar ataxia type 3, also known as Machado-Joseph disease (SCA3/MJD), accumulates before the beginning symptoms. Our study aims at validating biomarkers for progression since pre-ataxic periods. We report on baseline findings clinical scales and oculomotor neurophysiology. Methods Ataxic (Scale Assessment Rating Ataxia > 2.5) 50% risk subjects were included. latter subdivided into noncarriers, carriers near (PAN), or far from (PAFF) onset (AO), with 4 years predicted age being cutoff. assessed by Neurological Examination Score Spinocerebellar (NESSCA), International Cooperative Scale (ICARS), Inventory Non-Ataxic Signs (INAScount), Composite Cerebellar Functions SCA Functional Index, video-oculography, including regression slope vestibulo-ocular reflex gain (VORr), main sequence volitional reflexive vertical saccades, slow-phase velocity central gaze-evoked (SPV-GE) nystagmus, pursuit gain. Correction multiple comparisons was performed; threshold statistical significance P Results A total 35 ataxic, 14 PAN, 24 PAFF, 22 noncarriers All variables showed significant differences between groups correlated to time after onset, among all 73 SCA3/MJD carriers; none significantly changed in controls. NESSCA, ICARS, INAScount, VORr, SPV-GE not only distinguished PAN controls but left AO. Conclusions Clinical video-oculography already altered worsened time. are good candidates measure preclinical changes SCA3/MJD. © 2021 Parkinson Movement Disorder Society.