TY  - JOUR
AU  - Berger, Moritz
AU  - Garcia-Moreno, Hector
AU  - Ferreira, Mónica
AU  - Hubener-Schmid, Jeannette
AU  - Schaprian, Tamara
AU  - Wegner, Philipp
AU  - Elter, Tim-Lukas
AU  - Teichmann, Kennet M
AU  - Santana, Magda M
AU  - Grobe-Einsler, Marcus
AU  - Oender, Demet
AU  - Koyak, Berkan S C
AU  - Bernsen, Sarah
AU  - Pereira de Almeida, Luís
AU  - Silva, Patrick
AU  - Ribeiro, Joana Afonso
AU  - Cunha, Inês
AU  - Gonzalez-Robles, Cristina
AU  - Khan, Shamsher
AU  - Heslegrave, Amanda
AU  - Zetterberg, Henrik
AU  - Lima, Manuela
AU  - Raposo, Mafalda
AU  - Ferreira, Ana F
AU  - Vasconcelos, João
AU  - van de Warrenburg, Bart P
AU  - van Gaalen, Judith
AU  - van Prooije, Teije H
AU  - de Vries, Jeroen
AU  - Schols, Ludger
AU  - Riess, Olaf
AU  - Synofzik, Matthis
AU  - Timmann, Dagmar
AU  - Thieme, Andreas
AU  - Erdlenbruch, Friedrich
AU  - Infante, Jon
AU  - Pelayo-Negro, Ana L
AU  - Manrique, Leire
AU  - Reetz, Kathrin
AU  - Dogan, Imis
AU  - Oz, Gulin
AU  - Joers, James M
AU  - Bushara, Khalafalla
AU  - Onyike, Chiadikaobi
AU  - Povazan, Michal
AU  - Jacobi, Heike
AU  - Schmahmann, Jeremy D
AU  - Ratai, Eva-Maria
AU  - Schmid, Matthias
AU  - Giunti, Paola
AU  - Klockgether, Thomas
AU  - Faber, Jennifer
TI  - Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort.
JO  - The lancet / Regional health. Europe
VL  - 55
SN  - 2666-7762
CY  - [Amsterdam]
PB  - Elsevier
M1  - DZNE-2025-00867
SP  - 101339
PY  - 2025
AB  - Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly inherited adult-onset disease. We aimed to describe longitudinal changes in clinical and biological findings and to identify predictors for clinical progression.We used data from participants enrolled in the ESMI cohort collected between Nov 09, 2016 and July 18, 2023. The data freeze included data from 14 sites in five European countries and the United States. We assessed ataxia with the Scale for the Assessment and Rating of Ataxia (SARA). We measured disease-specific mutant ataxin-3 protein (ATXN3) and neurofilament light chain (NfL) in plasma and performed MRIs. Data were analysed by regression modelling on a timescale defined by onset. The onset of abnormality of a marker was defined as the time at which its value, as determined by modelling, exceeded the mean ± 2 SD of healthy controls. To study responsiveness of markers, we determined the sensitivity to change ratios (SCSs).Data from 291 SCA3 mutation carriers before and after clinical onset and 121 healthy controls were included. NfL levels became abnormal in SCA3 mutation carriers more than 20 years (-21.5 years [95
KW  - ATXN3 (Other)
KW  - Biomarker (Other)
KW  - Disease modelling (Other)
KW  - MRI (Other)
KW  - NfL (Other)
KW  - Spinocerebellar ataxia (Other)
KW  - Staging model (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:40678042
C2  - pmc:PMC12270660
DO  - DOI:10.1016/j.lanepe.2025.101339
UR  - https://pub.dzne.de/record/280023
ER  -