TY  - JOUR
AU  - Petit, Emilien
AU  - López Domínguez, Daniel
AU  - Marelli, Cecilia
AU  - Sayah, Sabrina
AU  - Pulst, Stefan M
AU  - Faber, Jennifer
AU  - Oz, Gulin
AU  - Paulson, Henry L
AU  - Ashizawa, Tetsuo
AU  - Tezenas du Montcel, Sophie
AU  - Durr, Alexandra
AU  - Coarelli, Giulia
TI  - Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias.
JO  - Neurology
VL  - 105
IS  - 5
SN  - 0028-3878
CY  - Philadelphia, Pa.
PB  - Wolters Kluwer
M1  - DZNE-2025-00973
SP  - e213980
PY  - 2025
AB  - 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
KW  - Humans
KW  - Spinocerebellar Ataxias: genetics
KW  - Spinocerebellar Ataxias: epidemiology
KW  - Spinocerebellar Ataxias: complications
KW  - Spinocerebellar Ataxias: diagnostic imaging
KW  - Male
KW  - Female
KW  - Middle Aged
KW  - Disease Progression
KW  - Adult
KW  - Prevalence
KW  - Severity of Illness Index
KW  - Aged
KW  - Magnetic Resonance Imaging
KW  - Neurofilament Proteins: blood
KW  - Peptides: genetics
KW  - Cerebellar Diseases: epidemiology
KW  - neurofilament protein L (NLM Chemicals)
KW  - Neurofilament Proteins (NLM Chemicals)
KW  - Peptides (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40834346
C2  - pmc:PMC12367419
DO  - DOI:10.1212/WNL.0000000000213980
UR  - https://pub.dzne.de/record/280789
ER  -