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dc.contributor.authorOliveira, Camila Maria dept_BR
dc.contributor.authorLeotti, Vanessa Bielefeldtpt_BR
dc.contributor.authorCappelli, Amanda Henzpt_BR
dc.contributor.authorRocha, Anastácia Guimarãespt_BR
dc.contributor.authorEcco, Gabrielapt_BR
dc.contributor.authorBolzan, Gabrielapt_BR
dc.contributor.authorKersting, Natháliapt_BR
dc.contributor.authorPereira, Maria Luiza Saraivapt_BR
dc.contributor.authorJardim, Laura Bannachpt_BR
dc.date.accessioned2023-04-05T03:47:53Zpt_BR
dc.date.issued2023pt_BR
dc.identifier.issn1531-8257pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/256722pt_BR
dc.description.abstractBackground: Little is known about preclinical stages of Machado-Joseph disease, a polyglutamine disorder characterized by progressive adult-onset ataxia. Objective: We aimed to describe the longitudinal progression of clinical and oculomotor variables in the preataxic phase of disease. Methods: Carriers and noncarriers were assessed at three visits. Preataxic carriers (Scale for Assessment and Rating of Ataxia score < 3) expected to start ataxia in ≤4 years were considered near onset (PAN). Progressions of ataxic and preataxic carriers, considering status at the end of the study, were described according to the start (or its prediction) of gait ataxia (TimeToAfterOnset) and according to the study time. Results: A total of 35 ataxics, 38 preataxics, and 22 noncarriers were included. The “TimeToAfterOnset” timeline showed that Neurological Examination Scale for Spinocerebellar Ataxias (NESSCA; effect size, 0.09), Inventory of Non-Ataxia Symptoms (INAS0.07), and the vestibulo-ocular reflex gain (0.12) progressed in preataxic carriers, and that most slopes accelerate in PAN, turning similar to those of ataxics. In the study time, NESSCA (1.36) and vertical pursuit gain (1.17) significantly worsened in PAN, and 6 of 11 PANs converted to ataxia. For a clinical trial with 80% power and 2-year duration, 57 PANs are needed in each study arm to detect a 50% reduction in the conversion rate. Conclusions: NESSCA, INAS, vestibulo-ocular reflex, and vertical pursuit gains significantly worsened in the preataxic phase. The “TimeToAfterOnset” timeline unveiled that slopes of most variables are small in preataxics but increase and reach the ataxic slopes from 4 years before the onset of ataxia. For future trials in preataxic carriers, we recommend recruiting PANs and using the conversion rate as the primary outcome. © 2022 International Parkinson and Movement Disorder Society.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofMovement disorders. New York. Vol. 38, no. 1 (Jan. 2023), p. 26-34pt_BR
dc.rightsOpen Accessen
dc.subjectDoença de Machado-Josephpt_BR
dc.subjectSpinocerebellar ataxia type 3en
dc.subjectBiomarcadorespt_BR
dc.subjectBiomarkersen
dc.subjectPre-ataxic perioden
dc.subjectMovimentos ocularespt_BR
dc.subjectProgressão da doençapt_BR
dc.titleProgression of clinical and eye movement markers in preataxic carriers of Machado-Joseph Diseasept_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001165535pt_BR
dc.type.originEstrangeiropt_BR


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