Monitoring disease progression in spinocerebellar ataxias: implications for treatment and clinical research
作者： Lidia Sarro , Lorenzo Nanetti , Anna Castaldo , Caterina Mariotti
DOI: 10.1080/14737175.2017.1364628
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摘要: ABSTRACTIntroduction: Spinocerebellar ataxias (SCAs) are autosomal dominant diseases characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, eye movement disturbances. Approximately 40 genetic subtypes of SCAs known classified according to the causative disease gene/locus. With possibility specific diagnosis in patients at-risk family members, several clinical scales functional tests have been validated used ataxic with purposes measuring entity progression natural history studies possible slowing neurological impairment therapeutic trials.Areas covered: This paper reviews most widely quantitative that contributed monitoring common forms SCAs.Expert commentary: The currently available performance scores adequate measure severity, but may require a co...
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