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Monitoring disease progression in spinocerebellar ataxias: implications for treatment and clinical research.
Expert Review of Neurotherapeutics 2017 August 14
INTRODUCTION: Spinocerebellar ataxias (SCAs) are autosomal dominant diseases characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and eye movement disturbances. Approximately 40 genetic subtypes of SCAs are known and classified according to the causative disease gene/locus. With the possibility of the specific genetic diagnosis in patients and at-risk family members, several clinical scales and functional tests have been validated and used in ataxic patients with the purposes of measuring the entity of disease progression in natural history studies and the possible slowing of neurological impairment in therapeutic trials. Areas covered: This paper reviews the most widely used clinical scales and quantitative tests that contributed in monitoring disease progression of the most common forms of SCAs. Expert commentary: The currently available and validated clinical scales and quantitative performance scores are adequate to measure disease severity, but may require a considerable number of subjects and a long period of treatment to allow the recognition of beneficial effect of interventional therapies. Advanced MRI techniques are a consistent biomarker and maybe useful to track disease progression from the preclinical to the manifest ataxic phase in association with appropriate clinical or paraclinical investigations.
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