Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.

Autor: Maas RPPWM; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Teerenstra S; Department for Health Evidence, Biostatistics Section, Radboud University Medical Center, Nijmegen, The Netherlands., Lima M; Faculdade de Ciências e Tecnologia, Universidade dos Açores, Azores, Portugal.; Instituto de Biologia Molecular e Celular (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal., Pires P; Department of Neurology, Hospital Santo Espírito da ilha Terceira, Azores, Portugal., Pereira de Almeida L; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.; Center for Innovation in Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal., van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Infante J; Neurology Service, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CINERNED), University Hospital Marques de Valdecilla-IDIVAL, University of Cantabria-UC, Santander, Spain., Onyike C; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Bushara K; Ataxia Center, Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA., Jacobi H; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany., Reetz K; Department of Neurology, RWTH Aachen University, Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, Aachen, Germany., Santana MM; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.; Center for Innovation in Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal., Afonso Ribeiro J; Department of Neurology, Child Development Centre, Coimbra's Hospital and University Centre, Coimbra, Portugal., Hübener-Schmid J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., de Vries JJ; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands., Synofzik M; Department of Neurodegenerative Diseases, Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Schöls L; Department of Neurodegenerative Diseases, Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Garcia-Moreno H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospital NHS Foundation Trust, London, United Kingdom., Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospital NHS Foundation Trust, London, United Kingdom., Faber J; Department of Neurology, University Hospital Bonn, Bonn, Germany.; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany., Klockgether T; Department of Neurology, University Hospital Bonn, Bonn, Germany.; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany., van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Jazyk: angličtina
Zdroj: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Sep; Vol. 37 (9), pp. 1850-1860. Date of Electronic Publication: 2022 Jul 08.
DOI: 10.1002/mds.29135
Abstrakt: Background: Disease severity in spinocerebellar ataxia type 3 (SCA3) is commonly defined by the Scale for the Assessment and Rating of Ataxia (SARA) sum score, but little is known about the contributions and progression patterns of individual items.
Objectives: To investigate the temporal dynamics of SARA item scores in SCA3 patients and evaluate if clinical and demographic factors are differentially associated with evolution of axial and appendicular ataxia.
Methods: In a prospective, multinational cohort study involving 11 European and 2 US sites, SARA scores were determined longitudinally in 223 SCA3 patients with a follow-up assessment after 1 year.
Results: An increase in SARA score from 10 to 20 points was mainly driven by axial and speech items, with a markedly smaller contribution of appendicular items. Finger chase and nose-finger test scores not only showed the lowest variability at baseline, but also the least deterioration at follow-up. Compared with the full set of SARA items, omission of both tests would result in lower sample size requirements for therapeutic trials. Sex was associated with change in SARA sum score and appendicular, but not axial, subscore, with a significantly faster progression in men. Despite considerable interindividual variability, the average annual progression rate of SARA score was approximately three times higher in subjects with a disease duration over 10 years than in those within 10 years from onset.
Conclusion: Our findings provide evidence for a difference in temporal dynamics between axial and appendicular ataxia in SCA3 patients, which will help inform the design of clinical trials and development of new (etiology-specific) outcome measures. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
(© 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
Databáze: MEDLINE
Externí odkaz: