eprintid: 10152453 rev_number: 8 eprint_status: archive userid: 699 dir: disk0/10/15/24/53 datestamp: 2022-07-21 14:43:12 lastmod: 2024-10-25 15:50:50 status_changed: 2022-07-21 14:43:12 type: article metadata_visibility: show sword_depositor: 699 creators_name: Maas, Roderick PPWM creators_name: Teerenstra, Steven creators_name: Lima, Manuela creators_name: Pires, Paula creators_name: Pereira de Almeida, Luis creators_name: van Gaalen, Judith creators_name: Timmann, Dagmar creators_name: Infante, Jon creators_name: Onyike, Chiadi creators_name: Bushara, Khalaf creators_name: Jacobi, Heike creators_name: Reetz, Kathrin creators_name: Santana, Magda M creators_name: Afonso Ribeiro, Joana creators_name: Huebener-Schmid, Jeannette creators_name: de Vries, Jeroen J creators_name: Synofzik, Matthis creators_name: Schoels, Ludger creators_name: Garcia-Moreno, Hector creators_name: Giunti, Paola creators_name: Faber, Jennifer creators_name: Klockgether, Thomas creators_name: van de Warrenburg, Bart PC title: Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3 ispublished: pub subjects: UCH divisions: C07 divisions: F84 divisions: B02 divisions: UCL divisions: D07 keywords: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, spinocerebellar ataxia type 3, natural history, Scale for the Assessment and Rating of Ataxia, disease progression, DISEASE PROGRESSION, CEREBELLAR-ATAXIA, NATURAL-HISTORY, SPINOCEREBELLAR note: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third-party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ abstract: 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. date: 2022-07-08 date_type: published publisher: WILEY official_url: https://doi.org/10.1002/mds.29135 oa_status: green full_text_type: pub language: eng primo: open primo_central: open_green verified: verified_manual elements_id: 1965259 doi: 10.1002/mds.29135 medium: Print-Electronic lyricists_name: Giunti, Paola lyricists_id: PGIUN65 actors_name: Flynn, Bernadette actors_id: BFFLY94 actors_role: owner funding_acknowledgements: 739510 [European Reference Network for Rare Neurological Diseases] full_text_status: public publication: Movement Disorders pages: 12 event_location: United States citation: Maas, Roderick PPWM; Teerenstra, Steven; Lima, Manuela; Pires, Paula; Pereira de Almeida, Luis; van Gaalen, Judith; Timmann, Dagmar; ... van de Warrenburg, Bart PC; + view all <#> Maas, Roderick PPWM; Teerenstra, Steven; Lima, Manuela; Pires, Paula; Pereira de Almeida, Luis; van Gaalen, Judith; Timmann, Dagmar; Infante, Jon; Onyike, Chiadi; Bushara, Khalaf; Jacobi, Heike; Reetz, Kathrin; Santana, Magda M; Afonso Ribeiro, Joana; Huebener-Schmid, Jeannette; de Vries, Jeroen J; Synofzik, Matthis; Schoels, Ludger; Garcia-Moreno, Hector; Giunti, Paola; Faber, Jennifer; Klockgether, Thomas; van de Warrenburg, Bart PC; - view fewer <#> (2022) Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3. Movement Disorders 10.1002/mds.29135 <https://doi.org/10.1002/mds.29135>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/10152453/1/Movement%20Disorders%20-%202022%20-%20Maas.pdf