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Mov Disord. 2021 Oct 29; doi: 10.1002/mds.28844. Epub 2021 Oct 29.

Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.

Movement disorders : official journal of the Movement Disorder Society

Holger Hengel, Peter Martus, Jennifer Faber, Hector Garcia-Moreno, Nita Solanky, Paola Giunti, Thomas Klockgether, Kathrin Reetz, Bart P van de Warrenburg, Luís Pereira de Almeida, Magda M Santana, Cristina Januário, Patrick Silva, Andreas Thieme, Jon Infante, Jeroen de Vries, Manuela Lima, Ana F Ferreira, Khalaf Bushara, Heike Jacobi, Chiadi Onyike, Jeremy D Schmahmann, Jeannette Hübener-Schmid, Matthis Synofzik, Ludger Schöls

Affiliations

  1. Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  2. German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  3. Institute of Clinical Epidemiology and Applied Biostatistics, University of Tübingen, Tübingen, Germany.
  4. German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  5. Department of Neurology, University Hospital Bonn, Bonn, Germany.
  6. Ataxia Centre, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London (UCL), London, United Kingdom.
  7. Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals (UCLH) National Health Service Foundation Trust, London, United Kingdom.
  8. Department of Neurology, Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen University, Aachen, Germany.
  9. Jülich Aachen Research Alliance (JARA) Brain Institute: Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich, Jülich, Germany.
  10. Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  11. Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
  12. Center for Innovation in Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal.
  13. Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal.
  14. Department of Neurology and Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen, Essen, Germany.
  15. Neurology Service, University Hospital Marqués de Valdecilla - Instituto de investigación sanitaria Valdecilla (IDIVAL), University of Cantabria, Santander, Spain.
  16. Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Barcelona, Spain.
  17. Department of Neurology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
  18. Faculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.
  19. Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.
  20. Department of Neurology, University Hospital of Heidelberg, Heidelberg, Germany.
  21. Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  22. Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  23. Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  24. Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany.

PMID: 34713931 DOI: 10.1002/mds.28844

Abstract

BACKGROUND: Lifestyle could influence the course of hereditary ataxias, but representative data are missing.

OBJECTIVE: The objective of this study was to characterize lifestyle in spinocerebellar ataxia type 3 (SCA3) and investigate possible associations with disease parameters.

METHODS: In a prospective cohort study, data on smoking, alcohol consumption, physical activity, physiotherapy, and body mass index (BMI) were collected from 243 patients with SCA3 and 119 controls and tested for associations with age of onset, disease severity, and progression.

RESULTS: Compared with controls, patients with SCA3 were less active and consumed less alcohol. Less physical activity and alcohol abstinence were associated with more severe disease, but not with progression rates or age of onset. Smoking, BMI, or physiotherapy did not correlate with disease parameters.

CONCLUSION: Differences in lifestyle factors of patients with SCA3 and controls as well as associations of lifestyle factors with disease severity are likely driven by the influence of symptoms on behavior. No association between lifestyle and disease progression was detected. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

© 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keywords: SCA3; alcohol; body mass index; lifestyle; physical activity

References

  1. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3(5):291-304. - PubMed
  2. Keiser MS, Kordasiewicz HB, McBride JL. Gene suppression strategies for dominantly inherited neurodegenerative diseases: lessons from Huntington's disease and spinocerebellar ataxia. Hum Mol Genet 2016;25(R1):R53-R64. - PubMed
  3. Scoles DR, Pulst SM. Oligonucleotide therapeutics in neurodegenerative diseases. RNA Biol 2018;15(6):707-714. - PubMed
  4. Jacobi H, du Montcel ST, Bauer P, et al. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol 2015;14(11):1101-1108. - PubMed
  5. Diallo A, Jacobi H, Tezenas du Montcel S, Klockgether T. Natural history of most common spinocerebellar ataxia: a systematic review and meta-analysis. J Neurol 2021;268(8):2749-2756. - PubMed
  6. Tezenas du Montcel S, Durr A, Bauer P, et al. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain 2014;137(9):2444-2455. - PubMed
  7. Maciel P, Gaspar C, DeStefano AL, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 1995;57(1):54-61. - PubMed
  8. Globas C, du Montcel ST, Baliko L, et al. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord 2008;23(15):2232-2238. - PubMed
  9. Schmitz-Hübsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006;66(11):1717-1720. - PubMed
  10. Genetic Modifiers of Huntington's Disease Consortium. CAG repeat not polyglutamine length determines timing of Huntington's disease onset. Cell 2019;178(4):887-900. - PubMed
  11. Tezenas du Montcel S, Durr A, Rakowicz M, et al. Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. J Med Genet 2014;51(7):479-486. - PubMed
  12. Reetz K, Dogan I, Hilgers R-D, et al. Progression characteristics of the European Friedreich's ataxia consortium for translational studies (EFACTS): a 2 year cohort study. Lancet Neurol 2016;15(13):1346-1354. - PubMed
  13. Craig CL, Marshall AL, Sjöström M, et al. International physical activity questionnaire: 12-country reliability and validity. Med Sci Sports Exerc 2003;35(8):1381-1395. - PubMed
  14. Bull FC, Al-Ansari SS, Biddle S, et al. World Health Organization 2020 guidelines on physical activity and sedentary behaviour. Br J Sports Med 2020;54(24):1451. - PubMed
  15. Imhof A, Woodward M, Doering A, et al. Overall alcohol intake, beer, wine, and systemic markers of inflammation in western Europe: results from three MONICA samples (Augsburg, Glasgow, Lille). Eur Heart J 2004;25(23):2092-2100. - PubMed
  16. Bürk K, Mälzig U, Wolf S, et al. Comparison of three clinical rating scales in Friedreich ataxia (FRDA). Mov Disord 2009;24(12):1779-1784. - PubMed
  17. Fonteyn EM, Keus SH, Verstappen CC, van de Warrenburg BP. Physiotherapy in degenerative cerebellar ataxias: utilisation, patient satisfaction, and professional expertise. Cerebellum 2013;12(6):841-847. - PubMed
  18. Diallo A, Jacobi H, Schmitz-Hübsch T, et al. Body mass index decline is related to Spinocerebellar ataxia disease progression. Mov Disord Clin Pract 2017;4(5):689-697. - PubMed
  19. Yang JS, Chen PP, Lin MT, et al. Association between body mass index and disease severity in Chinese Spinocerebellar ataxia type 3 patients. Cerebellum 2018;17(4):494-498. - PubMed
  20. Saute JA, Silva AC, Souza GN, et al. Body mass index is inversely correlated with the expanded CAG repeat length in SCA3/MJD patients. Cerebellum 2012;11(3):771-774. - PubMed
  21. Djoussé L, Knowlton B, Cupples LA, Marder K, Shoulson I, Myers RH. Weight loss in early stage of Huntington's disease. Neurology 2002;59(9):1325-1330. - PubMed
  22. van der Burg JMM, Gardiner SL, Ludolph AC, Landwehrmeyer GB, Roos RAC, Aziz NA. Body weight is a robust predictor of clinical progression in Huntington disease. Ann Neurol 2017;82(3):479-483. - PubMed

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