Stance instability in preclinical SCA1 mutation carriers: A 4-year prospective posturography study
| Autor: | Anna Castaldo, Caterina Mariotti, Greta Brenna, Dario Alpini, Lorenzo Nanetti, Alessia Mongelli, Cinzia Gellera, Valentina Mattei |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
Genetic Markers Male congenital hereditary and neonatal diseases and abnormalities Spinocerebellar Ataxia Type 1 medicine.medical_specialty Heterozygote Adolescent Biophysics Ataxin 1 03 medical and health sciences Young Adult 0302 clinical medicine Physical medicine and rehabilitation medicine Postural Balance Humans Spinocerebellar Ataxias Orthopedics and Sports Medicine Prospective Studies 030223 otorhinolaryngology Prospective cohort study Ataxin-1 biology business.industry Rehabilitation Posturography Case-control study medicine.disease Case-Control Studies Mutation (genetic algorithm) Asymptomatic Diseases Mutation biology.protein Spinocerebellar ataxia Physical therapy Disease Progression Female business 030217 neurology & neurosurgery Follow-Up Studies |
| Zdroj: | Gaitposture. 57 |
| ISSN: | 1879-2219 |
| Popis: | We 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.Participants were 9 asymptomatic SCA1 mutation carriers (6M/3F), aged 31.8±7years (range 22-44), and 17 age-matched non-carrier controls (5M/12F) (age 18-42). Subjects underwent postural tests on a force platform (TetraxIn 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 (p0.0001 for all comparisons).Traceable 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. |
| Databáze: | OpenAIRE |
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