Evidence map›Paper›PMID 42301528›Full record

Observational studyJournal of neurology2026

Cerebellar cognitive-affective syndrome in Friedreich Ataxia.

Emilien Petit, Sabrina Sayah, Elisabetta Indelicato, Stéphanie Borel, Marcus Grobe-Einsler, Jennifer Faber, Almut T Bischoff, Thomas Klopstock, Jörg B Schulz, Kathrin Reetz and 12 more

2 registry-linked trialsAbstract readObservational StudyMulticenter Study
PubMed Publisher
In one paragraph

Observational study in Journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT03487367 unknown statusnot on this map

Clinical Trial Readiness for SCA1 and SCA3

TypeobservationalSponsorThe Methodist Hospital Research InstituteRan2018 to 2023Enrolled200ConditionsSpinocerebellar Ataxia Type 1, Spinocerebellar Ataxia 3
NCT05943002 recruitingnot on this map

Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia

TypeobservationalSponsorGerman Center for Neurodegenerative Diseases (DZNE)Ran2023 to 2028Enrolled200ConditionsFriedreich Ataxia
3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

Emilien Petit *Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.ORCID http://orcid.org/0009-0000-0602-7122
Sabrina Sayah *Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Elisabetta IndelicatoDepartment of Neurology, Center for Rare Movement Disorders Innsbruck, Medical University of Innsbruck, Innsbruck, Austria.
Stéphanie BorelSorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Marcus Grobe-EinslerGerman Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Jennifer FaberGerman Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Almut T BischoffFriedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian-Universität (LMU) Munich, Munich, Germany.
Thomas KlopstockFriedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian-Universität (LMU) Munich, Munich, Germany.
Jörg B SchulzDepartment of Neurology, RWTH Aachen University, Aachen, Germany.
Kathrin ReetzDepartment of Neurology, RWTH Aachen University, Aachen, Germany.
Ludger SchölsDepartment of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Brittany HumphriesDepartment of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, ON, Canada.
Mariana AtencioSorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Rania HilabSorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Audrey IskandarGerman Center for Neurodegenerative Diseases (DZNE), Site Rostock/Greifswald, Patient-Reported Outcomes and Health Economics Research, Greifswald, Germany.
Maresa BuchholzDepartment of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, ON, Canada.
Feng XieDepartment of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, ON, Canada.
Thomas KlockgetherGerman Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Bernhard MichalowskyDepartment of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, ON, Canada.
Sylvia BoeschDepartment of Neurology, Center for Rare Movement Disorders Innsbruck, Medical University of Innsbruck, Innsbruck, Austria.
Alexandra DurrSorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Giulia CoarelliSorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. giulia.coarelli@icm-institute.org.

Funding

Agence Nationale de la Recherche ANR21-RAR4-0003-04European Organisation for Rare Diseases 01GM2110
6 · The paper itself

Abstract

backgroundIncreasing evidence suggests that cognition and affect may be affected in Friedreich Ataxia (FA).

objectivesTo investigate the Cerebellar Cognitive Affective Syndrome (CCAS) in patients with FA and evaluate its correlations with speech and clinical parameters.

methodsPatients 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).

resultsA 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). DISCUSSION: 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.

Indexed as

Cerebellar Cognitive Affective SyndromeFriedreich AtaxiaAdultFemaleHumansMaleMiddle AgedProspective StudiesYoung AdultCerebellar cognitive affective syndromeDysarthriaFriedreich Ataxia

Identifiers

PMID42301528

What OpenQuestion holds

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.