TY  - JOUR
AU  - Petit, Emilien
AU  - Coarelli, Giulia
AU  - Morgan, David
AU  - Cunha, Paulina
AU  - Hurmic, Hortense
AU  - Faber, Jennifer
AU  - Grobe-Einsler, Marcus
AU  - Rezende, Thiago
AU  - Kuo, Sheng-Han
AU  - Wilmot, George R
AU  - Rosenthal, Liana S
AU  - Schmahmann, Jeremy D
AU  - Yacoubian, Talene A
AU  - Perlman, Susan L
AU  - Geschwind, Michael D
AU  - Gomez, Christopher M
AU  - Hawkins, Trevor
AU  - Subramony, S. H.
AU  - Shakkottai, Vikram G
AU  - Bushara, Khalaf O
AU  - Zesiewicz, Theresa A
AU  - Pulst, Stefan M
AU  - Park, Young Woo
AU  - Lenglet, Christophe
AU  - Klockgether, Thomas
AU  - Paulson, Henry L
AU  - Durr, Alexandra
AU  - Öz, Gülin
AU  - Ashizawa, Tetsuo
AU  - Tezenas du Montcel, Sophie
TI  - Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3.
JO  - Brain
VL  - 149
IS  - 4
SN  - 0006-8950
CY  - Oxford
PB  - Oxford Univ. Press
M1  - DZNE-2026-00369
SP  - 1268 - 1277
PY  - 2026
AB  - 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
KW  - Humans
KW  - Male
KW  - Disease Progression
KW  - Female
KW  - Middle Aged
KW  - Adult
KW  - Magnetic Resonance Imaging
KW  - Machado-Joseph Disease: diagnostic imaging
KW  - Spinocerebellar Ataxias: diagnostic imaging
KW  - Neurofilament Proteins: blood
KW  - Longitudinal Studies
KW  - Aged
KW  - biomarkers (Other)
KW  - brain MRI (Other)
KW  - clinical scales (Other)
KW  - natural history study (Other)
KW  - spinocerebellar ataxia (Other)
KW  - Neurofilament Proteins (NLM Chemicals)
KW  - neurofilament protein L (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:41150672
C2  - pmc:PMC12998449
DO  - DOI:10.1093/brain/awaf408
UR  - https://pub.dzne.de/record/285923
ER  -