Journal Article

DZNE-2026-00640

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Cerebellar cognitive-affective syndrome in Friedreich Ataxia.

Petit, E. ; Sayah, S. ; Indelicato, E. ; Borel, S. ; Grobe-Einsler, M.DZNE* ; Faber, J.DZNE* ; Bischoff, A. T.DZNE* ; Klopstock, T.DZNE* ; Schulz, J. B. ; Reetz, K. ; Schöls, L.DZNE* ; Humphries, B. ; Atencio, M. ; Hilab, R. ; Iskandar, A.DZNE* ; Buchholz, M.DZNE* ; Xie, F. ; Klockgether, T.DZNE* ; Michalowsky, B.DZNE* ; Boesch, S. ; Durr, A. ; Coarelli, G.

2026
Steinkopff [Darmstadt]

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Please use a persistent id in citations: doi:10.1007/s00415-026-13786-1

Abstract: Increasing evidence suggests that cognition and affect may be affected in Friedreich Ataxia (FA).To investigate the Cerebellar Cognitive Affective Syndrome (CCAS) in patients with FA and evaluate its correlations with speech and clinical parameters.Patients were recruited from the PROFA study (NCT05943002), a prospective observational cohort in France, Germany, and Austria. Assessments included clinical scales (Friedreich Ataxia Rating Scale-Activities of Daily Living, FARS-ADL, Scale for the Assessment and Rating of Ataxia), the CCAS scale, and patient-reported outcomes. Controls data were obtained from the READISCA study (NCT03487367).A total of 101 patients with FA and 43 controls with similar ages were included (35.4 ± 14.9 years vs 38.8 ± 9.5 years, p = 0.11). The mean CCAS total raw score was lower in patients than in controls (92.4 ± 13.7 vs 104.0 ± 8.5, p < 0.001), with a higher rate of definite CCAS (47% vs 12%, p < 0.001). The most frequently impaired cognitive functions in FA were phonemic fluency (44% vs 14%, p < 0.001), categoric switching (41% vs 9%, p < 0.001), and semantic fluency (20% vs 2%, p = 0.007). In multivariate models, CCAS total raw score increased with higher education and decreased with FARS-ADL (both p < 0.001). Dysarthria had no significant effect on total or item-level CCAS scores after adjustment for education, FARS-ADL, mean GAA repeats, and study center (all p > 0.15).Definite CCAS is common in FA, with deficits in phonemic fluency, categoric switching, and semantic fluency. Cognitive impairment appears independent of dysarthria severity, suggesting CCAS is an intrinsic manifestation of the disease.

Keyword(s): Humans (MeSH) ; Friedreich Ataxia: complications (MeSH) ; Friedreich Ataxia: physiopathology (MeSH) ; Friedreich Ataxia: epidemiology (MeSH) ; Cerebellar Cognitive Affective Syndrome: physiopathology (MeSH) ; Cerebellar Cognitive Affective Syndrome: etiology (MeSH) ; Cerebellar Cognitive Affective Syndrome: epidemiology (MeSH) ; Female (MeSH) ; Male (MeSH) ; Adult (MeSH) ; Middle Aged (MeSH) ; Prospective Studies (MeSH) ; Young Adult (MeSH) ; Cerebellar cognitive affective syndrome ; Dysarthria ; Friedreich Ataxia

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Contributing Institute(s):

1. Clinical Research Coordination (Clinical Research (Bonn))
2. Clinical Research (Munich) (Clinical Research (Munich))
3. Clinical Neurogenetics (AG Schöls)
4. Translational Health Care Research (AG Hoffmann)
5. Patient Studies (Bonn) (Patient Studies (Bonn))
6. Patient-Reported Outcomes and Health Economics Research (AG Michalowsky)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; DEAL Springer ; DEAL Springer ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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