Rating scales and biomarkers for CAG-repeat spinocerebellar ataxias: Implications for therapy development.

Meng-Ling Chen, Chih-Chun Lin, Liana S Rosenthal, Puneet Opal, Sheng-Han Kuo

Journal of the neurological sciences 2021 May 15

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Spinocerebellar ataxias (SCAs) are a group of dominantly-inherited cerebellar ataxias, among which CAG expansion-related SCAs are most common. These diseases have very high penetrance with defined disease progression, and emerging therapies are being developed to provide either symptomatic or disease-modifying benefits. In clinical trial design, it is crucial to incorporate biomarkers to test target engagement or track disease progression in response to therapies, especially in rare diseases such as SCAs. In this article, we review the available rating scales and recent advances of biomarkers in CAG-repeat SCAs. We divided biomarkers into neuroimaging, body fluid, and physiological studies. Understanding the utility of each biomarker will facilitate the design of robust clinical trials to advance therapies for SCAs. Copyright © 2021 Elsevier B.V. All rights reserved.

Citation

Meng-Ling Chen, Chih-Chun Lin, Liana S Rosenthal, Puneet Opal, Sheng-Han Kuo. Rating scales and biomarkers for CAG-repeat spinocerebellar ataxias: Implications for therapy development. Journal of the neurological sciences. 2021 May 15;424:117417