TY  - JOUR
AU  - Jacobi, Heike
AU  - Schaprian, Tamara
AU  - Beyersmann, Jan
AU  - Tezenas du Montcel, Sophie
AU  - Schmid, Matthias
AU  - Klockgether, Thomas
AU  - EUROSCA
TI  - Evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6.
JO  - Annals of Clinical and Translational Neurology
VL  - 9
IS  - 3
SN  - 2328-9503
CY  - Chichester [u.a.]
PB  - Wiley
M1  - DZNE-2022-00480
SP  - 286 - 295
PY  - 2022
AB  - The aim was to study the evolution of disability in spinocerebellar ataxias (SCAs) type 1, 2, 3, and 6 (SCA1, 2, 3, 6).We analyzed data of two longitudinal cohorts (RISCA, EUROSCA) which recruited ataxic and non-ataxic SCA1, SCA2, SCA3, and SCA6 mutation carriers. To study disability, we used a five-stage system for ataxia defined by walking ability (stages 0-3) and death (stage 4). Transitions were analyzed using a multi-state model with proportional transition hazards. Based on the hazard estimates, transition probabilities and the expected lengths of stay in each stage were calculated. We further studied the effect of sex and CAG repeat length on progression.Data of 3138 visits in 677 participants were analyzed. Median SARA scores for SCA1, SCA2, SCA3, and SCA6 ranged from 1.5 (interquartile range [IQR] = 0.0-3.5) to 3.5 (IQR = 1.4-6.1) in stage 0, 11.5 (IQR = 9.6-14.0) to 13.8 (IQR = 11.0-16.0) in stage 1, 19.0 (IQR = 17.0-21.0) to 23.8 (IQR = 19.5-27.0) in stage 2, and 28.5 (IQR = 26.0-32.5) to 34.0 (IQR = 32.6-37.1) in stage 3. Modeling allowed to calculate the subtype-specific probability to be in a certain stage at a given age and duration of each stage. CAG repeat length was associated with faster progression in SCA1 (HR, 95
KW  - Disease Progression
KW  - Female
KW  - Humans
KW  - Spinocerebellar Ataxias: genetics
LB  - PUB:(DE-HGF)16
C6  - pmid:35188716
C2  - pmc:PMC8935317
DO  - DOI:10.1002/acn3.51515
UR  - https://pub.dzne.de/record/163741
ER  -