%0 Journal Article
%A Petit, Emilien
%A Coarelli, Giulia
%A Morgan, David
%A Cunha, Paulina
%A Hurmic, Hortense
%A Faber, Jennifer
%A Grobe-Einsler, Marcus
%A Rezende, Thiago
%A Kuo, Sheng-Han
%A Wilmot, George R
%A Rosenthal, Liana S
%A Schmahmann, Jeremy D
%A Yacoubian, Talene A
%A Perlman, Susan L
%A Geschwind, Michael D
%A Gomez, Christopher M
%A Hawkins, Trevor
%A Subramony, S. H.
%A Shakkottai, Vikram G
%A Bushara, Khalaf O
%A Zesiewicz, Theresa A
%A Pulst, Stefan M
%A Park, Young Woo
%A Lenglet, Christophe
%A Klockgether, Thomas
%A Paulson, Henry L
%A Durr, Alexandra
%A Öz, Gülin
%A Ashizawa, Tetsuo
%A Tezenas du Montcel, Sophie
%T Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3.
%J Brain
%V 149
%N 4
%@ 0006-8950
%C Oxford
%I Oxford Univ. Press
%M DZNE-2026-00369
%P 1268 - 1277
%D 2026
%X The READISCA study aims to prepare for clinical trials in spinocerebellar ataxia types 1 and 3 (SCA1 and SCA3). Hence, we searched for predictive variables of ataxia onset (phenoconversion) and progression. Individuals with SCA1 or SCA3 and controls were enrolled from 2018 to 2021 in the USA and Europe. Clinical scores, MRI measures and neurofilament light chain (NfL) levels were assessed annually for 5 years. In the pre-ataxic group at baseline, we compared phenoconverters with non-converters. A Bayesian mixed model was used to model the longitudinal progression of clinical scores and NfL levels. The impact of data-driven selected baseline variables (demographic, clinical and MRI) on the expected Scale for Assessment and Rating of Ataxia progression was tested. Forty-three controls, 55 SCA1 carriers and 124 SCA3 carriers were included; a subset of the cohort (n = 109) had MRI data. Converters from pre-ataxic to ataxic stages represented 5/22 (22
%K Humans
%K Male
%K Disease Progression
%K Female
%K Middle Aged
%K Adult
%K Magnetic Resonance Imaging
%K Machado-Joseph Disease: diagnostic imaging
%K Spinocerebellar Ataxias: diagnostic imaging
%K Neurofilament Proteins: blood
%K Longitudinal Studies
%K Aged
%K biomarkers (Other)
%K brain MRI (Other)
%K clinical scales (Other)
%K natural history study (Other)
%K spinocerebellar ataxia (Other)
%K Neurofilament Proteins (NLM Chemicals)
%K neurofilament protein L (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:41150672
%2 pmc:PMC12998449
%R 10.1093/brain/awaf408
%U https://pub.dzne.de/record/285923