%0 Journal Article
%A Petit, Emilien
%A López Domínguez, Daniel
%A Marelli, Cecilia
%A Sayah, Sabrina
%A Pulst, Stefan M
%A Faber, Jennifer
%A Oz, Gulin
%A Paulson, Henry L
%A Ashizawa, Tetsuo
%A Tezenas du Montcel, Sophie
%A Durr, Alexandra
%A Coarelli, Giulia
%T Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias.
%J Neurology
%V 105
%N 5
%@ 0028-3878
%C Philadelphia, Pa.
%I Wolters Kluwer
%M DZNE-2025-00973
%P e213980
%D 2025
%X Cerebellar cognitive-affective syndrome (CCAS) results from cerebellar degeneration, but its prevalence in spinocerebellar ataxias (SCAs) remains underexplored. This study assessed CCAS prevalence, severity, and progression across different SCAs.We included polyglutamine (PolyQ) SCA expansion carriers (ATXN1/SCA1, ATXN2/SCA2, ATXN3/SCA3, and ATXN7/SCA7), patients with FGF14/SCA27B and SPG7, and controls. Cognitive function was assessed with the CCAS scale and ataxia severity with the Scale for the Assessment and Rating of Ataxia (SARA) and Composite Cerebellar Functional Severity (CCFS) score. We correlated CCAS score with ataxia severity, brain MRI, and plasma neurofilament light chain (NfL) levels. Subtest comparisons among genotypes were adjusted for age, education, and SARA score. In PolyQ SCA carriers, we explored CCAS progression.We included 371 participants: 66 with SCA1, 28 with SCA2, 158 with SCA3, 24 with SCA7, 35 with SPG7, 17 with SCA27B, and 43 controls. Those with SCA27B and SPG7 were older (69.5 ± 9.5 and 57.8 ± 10.6 years) with lower education (11.4 ± 4.2 and 12.7 ± 3.6 years) than those with PolyQ SCAs (from 40.3 ± 14.0 for SCA7 group to 45.9 ± 11.2 years in SCA3 group, p < 0.0001; education ranging from 14.4 ± 3.1 for SCA2 group to 15.4 ± 2.8 years for SCA7 group, p < 0.0001). Among ataxic patients, definite CCAS was detected in 88
%K Humans
%K Spinocerebellar Ataxias: genetics
%K Spinocerebellar Ataxias: epidemiology
%K Spinocerebellar Ataxias: complications
%K Spinocerebellar Ataxias: diagnostic imaging
%K Male
%K Female
%K Middle Aged
%K Disease Progression
%K Adult
%K Prevalence
%K Severity of Illness Index
%K Aged
%K Magnetic Resonance Imaging
%K Neurofilament Proteins: blood
%K Peptides: genetics
%K Cerebellar Diseases: epidemiology
%K neurofilament protein L (NLM Chemicals)
%K Neurofilament Proteins (NLM Chemicals)
%K Peptides (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:40834346
%2 pmc:PMC12367419
%R 10.1212/WNL.0000000000213980
%U https://pub.dzne.de/record/280789