Santiago Perez-Lloret1,2,3, Bart van de Warrenburg4, Malco Rossi5, Carmen Rodríguez-Blázquez6, Theresa Zesiewicz7, Jonas A M Saute8,9,10,11, Alexandra Durr12, Masatoyo Nishizawa13, Pablo Martinez-Martin14, Glenn T Stebbins15, Anette Schrag16, Matej Skorvanek17,18. 1. National Research Council (CAECIHS-UAI, CONICET), Buenos Aires, Argentina. 2. Faculty of Medicine, Pontifical Catholic University of Argentina, Buenos Aires, Argentina. 3. Department of Physiology, Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina. 4. Donders Institute for Brain, Cognition and Behavior, Department of Neurology, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, the Netherlands. 5. Movement Disorders Section, Raul Carrea Institute for Neurological Research, Buenos Aires, Argentina. 6. National Centre of Epidemiology, Institute of Health Carlos III and CIBERNED, Madrid, Spain. 7. Department of Neurology, University of South Florida, Tampa, Florida, USA. 8. Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil. 9. Neurology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil. 10. Postgraduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. 11. Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. 12. Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France. 13. Brain Research Institute, Niigata University, Niigata, Japan. 14. Center for Networked Biomedical Research in Neurodegenerative Diseases (CIBERNED), Carlos III Institute of Health, Madrid, Spain. 15. Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA. 16. Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, London, United Kingdom. 17. Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovak Republic. 18. Department of Neurology, University Hospital L. Pasteur, Kosice, Slovak Republic.
Abstract
BACKGROUND: We assessed the clinimetric properties of ataxia rating scales and functional tests, and made recommendations regarding their use. METHODS: A systematic literature search was conducted to identify the instruments used to rate ataxia symptoms. The identified rating scales and functional ability tests were reviewed and ranked by the panel as "recommended," "suggested," or "listed" for the assessment of patients with discrete cerebellar disorders, using previously established criteria. RESULTS: We reviewed 14 instruments (9 rating scales and 5 functional tests). "Recommended" rating scales for the assessment of symptoms severity were: for Friedreich's ataxia, the Friedreich's Ataxia Rating Scale, the International Cooperative Ataxia Rating Scale (ICARS), and the Scale for the Assessment and Rating of Ataxia (SARA); for spinocerebellar ataxias, ICARS and SARA; for ataxia telangiectasia: ICARS and SARA; for brain tumors, SARA; for congenital disorder of glycosylation-phosphomannomutase-2 deficiency, ICARS; for cerebellar symptoms in multiple sclerosis, ICARS; for cerebellar symptoms in multiple system atrophy: Unified Multiple System Atrophy Rating Scale and ICARS; and for fragile X-associated tremor ataxia syndrome, ICARS. "Recommended" functional tests were: for Friedreich's ataxia, Ataxia Functional Composite Score and Composite Cerebellar Functional Severity Score; and for spinocerebellar ataxias, Ataxia Functional Composite Score, Composite Cerebellar Functional Severity Score, and SCA Functional Index. CONCLUSIONS: We identified some "recommended" scales and functional tests for the assessment of patients with major hereditary ataxias and other cerebellar disorders. The main limitations of these instruments include the limited assessment of patients in the more severe end of the spectrum and children. Further research in these populations is warranted.
BACKGROUND: We assessed the clinimetric properties of ataxia rating scales and functional tests, and made recommendations regarding their use. METHODS: A systematic literature search was conducted to identify the instruments used to rate ataxia symptoms. The identified rating scales and functional ability tests were reviewed and ranked by the panel as "recommended," "suggested," or "listed" for the assessment of patients with discrete cerebellar disorders, using previously established criteria. RESULTS: We reviewed 14 instruments (9 rating scales and 5 functional tests). "Recommended" rating scales for the assessment of symptoms severity were: for Friedreich's ataxia, the Friedreich's Ataxia Rating Scale, the International Cooperative Ataxia Rating Scale (ICARS), and the Scale for the Assessment and Rating of Ataxia (SARA); for spinocerebellar ataxias, ICARS and SARA; for ataxia telangiectasia: ICARS and SARA; for brain tumors, SARA; for congenital disorder of glycosylation-phosphomannomutase-2 deficiency, ICARS; for cerebellar symptoms in multiple sclerosis, ICARS; for cerebellar symptoms in multiple system atrophy: Unified Multiple System Atrophy Rating Scale and ICARS; and for fragile X-associated tremor ataxia syndrome, ICARS. "Recommended" functional tests were: for Friedreich's ataxia, Ataxia Functional Composite Score and Composite Cerebellar Functional Severity Score; and for spinocerebellar ataxias, Ataxia Functional Composite Score, Composite Cerebellar Functional Severity Score, and SCA Functional Index. CONCLUSIONS: We identified some "recommended" scales and functional tests for the assessment of patients with major hereditary ataxias and other cerebellar disorders. The main limitations of these instruments include the limited assessment of patients in the more severe end of the spectrum and children. Further research in these populations is warranted.
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