Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements
| Autor: | Massimo Pandolfo, Javier Arpa, Ivan Karin, Andreas Eigentler, Anna Castaldo, Sophie Tezenas du Montcel, Paola Giunti, Michael H Parkinson, Irene Sanz-Gallego, Marta Panzeri, Jennifer Müller vom Hagen, L. Schoels, Audrey Tanguy Melac, Jörg B. Schulz, Lorenzo Nanetti, Thomas Klopstock, Caterina Mariotti, Sylvia Boesch, Alexandra Durr, Antoine Filipovic Pierucci, Thomas Klockgether, Kathrin Reetz, Ilaria Giordano, Chantal Depondt, Katrin Bürk, Wolfgang Nachbauer |
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| Přispěvatelé: | Tezenas du Montcel, Sophie, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University College of London [London] (UCL), Leopold Franzens Universität Innsbruck - University of Innsbruck, Munich Cluster for systems neurology [Munich] (SyNergy), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Ludwig-Maximilians-Universität München (LMU), University of Tübingen, German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Philipps Universität Marburg = Philipps University of Marburg, Universitätsklinikum RWTH Aachen - University Hospital Aachen [Aachen, Germany] (UKA), Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Jülich Aachen Research Alliance (JARA), Hôpital Erasme [Bruxelles], Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU) |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Time Factors physiopathology [Spinocerebellar Ataxias] Severity of Illness Index 0302 clinical medicine Medicine Age of Onset Child etiology [Cerebellar Diseases] Aged 80 and over Outcome measures Middle Aged Psychiatry and Mental health Spinocerebellar ataxia Cardiology Female medicine.symptom Adult medicine.medical_specialty Ataxia Adolescent Disease duration physiopathology [Friedreich Ataxia] Context (language use) 03 medical and health sciences Young Adult Cerebellar Diseases Internal medicine Humans Spinocerebellar Ataxias In patient ddc:610 Trial registration Aged complications [Spinocerebellar Ataxias] diagnosis [Cerebellar Diseases] business.industry Cerebellar dysfunction medicine.disease complications [Friedreich Ataxia] 030104 developmental biology [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie Friedreich Ataxia Case-Control Studies [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie Surgery Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Journal of neurology, neurosurgery, and psychiatry 89(6), 559-565 (2018). doi:10.1136/jnnp-2017-316964 Journal of neurology, neurosurgery, and psychiatry 89(6), 559-565 (2017). doi:10.1136/jnnp-2017-316964 Journal of Neurology, Neurosurgery and Psychiatry Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (6), pp.559-565. ⟨10.1136/jnnp-2017-316964⟩ |
| ISSN: | 1468-330X 0022-3050 |
| Popis: | BackgroundSensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction.MethodsWe evaluated two scales for rating cerebellar ataxias: the Composite Cerebellar Functional Severity (CCFS) Scale and Scale for the Assessment and Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls. We evaluated these scales for different diseases and investigated the factors governing the scores obtained. All patients were recruited prospectively.ResultsThere were 383 patients with Friedreich’s ataxia (FRDA), 205 patients with SCA and 168 controls. In FRDA, 31% of the variance of cerebellar signs with the CCFS and 41% of that with SARA were explained by disease duration, age at onset and the shorter abnormal repeat in the FXN gene. Increases in CCFS and SARA scores per year were lower for FRDA than for SCA (CCFS index: 0.123±0.123 per year vs 0.163±0.179, PConclusionsCerebellar dysfunction, as measured with the CCFS and SARA scales, was more severe in FRDA than in patients with SCA, but with lower progression indexes, within the limits of these types of indexes. Ceiling effects may occur at late stages, for both scales. The CCFS scale is rater-independent and could be used in a multicentre context, as it is simple, rapid and fully automated.Trial registration numberClinicalTrials.gov: NCT02069509. |
| Databáze: | OpenAIRE |
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