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@ARTICLE{Petit:280789,
      author       = {Petit, Emilien and López Domínguez, Daniel and Marelli,
                      Cecilia and Sayah, Sabrina and Pulst, Stefan M and Faber,
                      Jennifer and Oz, Gulin and Paulson, Henry L and Ashizawa,
                      Tetsuo and Tezenas du Montcel, Sophie and Durr, Alexandra
                      and Coarelli, Giulia},
      collaboration = {Consortium, READISCA},
      title        = {{P}revalence, {S}everity, and {P}rogression of {C}erebellar
                      {C}ognitive-{A}ffective {S}yndrome in {P}atients {W}ith
                      {S}pinocerebellar {A}taxias.},
      journal      = {Neurology},
      volume       = {105},
      number       = {5},
      issn         = {0028-3878},
      address      = {Philadelphia, Pa.},
      publisher    = {Wolters Kluwer},
      reportid     = {DZNE-2025-00973},
      pages        = {e213980},
      year         = {2025},
      abstract     = {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 $88\%$
                      of patients with SCA27B and $71\%$ of SPG7 carriers,
                      followed by SCA2 $(67\%),$ SCA7 $(67\%),$ SCA1 $(50\%),$ and
                      SCA3 $(41\%)$ groups. Among preataxic PolyQ SCA carriers,
                      CCAS was present in $11\%$ (10/89), similar to controls
                      $(11.6\%,$ p = 1). However, phonemic fluency showed an early
                      impairment in preataxic SCA1 carriers (11.8 ± 4.5 vs 14.6
                      ± 3.8, p = 0.04). In PolyQ SCA carriers, the CCAS total raw
                      score correlated with SARA score (r = -0.54, p < 0.0001),
                      CCFS score (r = -0.45; p < 0.0001), and plasma NfL levels (r
                      = -0.26, p = 0.002). CCAS scores correlated with cerebellar
                      volume in those with SCA2 (r = 0.64, p < 0.001). Patients
                      with SPG7 showed significantly poorer performance in
                      executive function, short-term memory, and abstract
                      reasoning compared with those with SCA3 and SCA7. In PolyQ
                      SCA carriers, improvements were observed during the first 3
                      years after inclusion (+2.0 ± 0.7 points, p = 0.002; +2.6
                      ± 0.8 points, p = 0.0007; +2.7 ± 0.8, p = 0.001,
                      respectively). By year 4, the increase was not significant
                      (+0.73 ± 1.16 points, p = 0.52).We observed early cognitive
                      impairment in PolyQ SCA carriers, correlating with clinical
                      measures, NfL levels, and cerebellum volume. Improvement
                      over 3 years likely reflects a practice effect, potentially
                      limiting the scale's longitudinal utility.},
      keywords     = {Humans / Spinocerebellar Ataxias: genetics /
                      Spinocerebellar Ataxias: epidemiology / Spinocerebellar
                      Ataxias: complications / Spinocerebellar Ataxias: diagnostic
                      imaging / Male / Female / Middle Aged / Disease Progression
                      / Adult / Prevalence / Severity of Illness Index / Aged /
                      Magnetic Resonance Imaging / Neurofilament Proteins: blood /
                      Peptides: genetics / Cerebellar Diseases: epidemiology /
                      neurofilament protein L (NLM Chemicals) / Neurofilament
                      Proteins (NLM Chemicals) / Peptides (NLM Chemicals)},
      cin          = {Clinical Research (Bonn)},
      ddc          = {610},
      cid          = {I:(DE-2719)1011001},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40834346},
      pmc          = {pmc:PMC12367419},
      doi          = {10.1212/WNL.0000000000213980},
      url          = {https://pub.dzne.de/record/280789},
}