Stance instability in preclinical SCA1 mutation carriers: A 4-year prospective posturography study |
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| Institution: | 1. Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan Italy;2. ENT-Otoneurology Service Fondazione don Carlo Gnocchi, Milan, Italy;3. Clinical Research Unit, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy;1. Department of Neurology, Blacktown Hospital, Blacktown, NSW, Australia;2. Blacktown Clinical School, University of Western Sydney, Blacktown, NSW, Australia;3. Department of Neurology, Prince of Wales Hospital, Randwick, NSW, Australia;1. Hematology Department, Hospital Universitario 12 de Octubre, Madrid, Spain;;2. Hematology Department, Clinica Universidad de Navarra, Centro de Investigación Medica Aplicada, Instituto de Investigación Sanitaria de Navarra, Pamplona, Spain;;3. Hematology Department, Hospital Universitario de Salamanca-Instituto de Investigación Biomédica de Salamanca, Instituto de Biología Molecular y Celular del Cáncer de Salamanca-Centro de Investigación del Cáncer, Salamanca, Spain;;4. Hematology Department, Hospital Germans i Trials, Barcelona, Spain;;5. Hematology Department, Hospital Clínico de Valencia, Valencia, Spain;;6. Hematology Department, Hospital La Fe, Valencia, Spain;;7. Hematology Department, Hospital Ramon y Cajal, Madrid, Spain;;8. Hematology Department, Hospital de Donostia, San Sebastián, Spain;;9. Hematology Department, Hospital Clínico Universitario, Zaragoza, Spain;;10. Hematology Department, Hospital Morales Messeguer, Murcia, Spain;;11. Hematology Department, Servicio General de Citometría and Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain; and;12. Hematology Department, Hospital Clinic, Institut d''Investigacions Biomédiques August Pi I Sunyer, Barcelona, Spain;1. Division of Pediatric Pulmonology, The Johns Hopkins Medical Institutions, Baltimore, MD;2. Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD;3. Division of Pediatric Allergy and Immunology, The Johns Hopkins Medical Institutions, Baltimore, MD;1. Houston Methodist Neurological Institute and Research Institute, Weill Cornell Medical College, Houston, TX 77030, USA;1. Centre for Medical Imaging, UCL, London, UK;2. Great Ormond Street Hospital, London, UK |
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| Abstract: | ObjectiveWe aimed to study postural balance in preclinical Spinocerebellar ataxia type 1 (SCA1) mutation carriers to identify and observe specific motor functional deficit before evident clinical manifestation.MethodsParticipants were 9 asymptomatic SCA1 mutation carriers (6 M/3F), aged 31.8 ± 7 years (range 22–44), and 17 age-matched non-carrier controls (5 M/12F) (age 18–42). Subjects underwent postural tests on a force platform (Tetrax®-IBS, Sunlight Medical Ltd.) with and without visual feedback. Amount of body sway was represented by stability index (ST). Tests were repeated after 2- and 4-years. Estimated years to onset were calculated.ResultsIn controls, ST was unchanged from baseline to 4-year evaluations in all standing conditions. SCA1 mutation carriers performed similarly to controls in the postural tasks with open eyes, whereas in conditions without visual feedback SCA1 carriers had significantly higher ST than controls at all longitudinal evaluations. Close-to-disease onset carriers (≤7years) showed more prominent time-dependent stance abnormalities (p < 0.0001 for all comparisons).ConclusionsTraceable and progressive postural abnormalities can be observed in preclinical close-to-onset SCA1 carriers. Quantitative analysis of stance could represent a promising outcome measure in clinical trials including preclinical subjects. |
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| Keywords: | Gait disorders Hereditary ataxia Spinocerebellar ataxia Trinucleotide repeat diseases Preclinical gene mutation carriers |
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