TY - JOUR
T1 - Rating scales and biomarkers for CAG-repeat spinocerebellar ataxias
T2 - Implications for therapy development
AU - Chen, Meng Ling
AU - Lin, Chih Chun
AU - Rosenthal, Liana S.
AU - Opal, Puneet
AU - Kuo, Sheng Han
N1 - Publisher Copyright:
© 2021 Elsevier B.V.
PY - 2021/5/15
Y1 - 2021/5/15
N2 - 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.
AB - 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.
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U2 - 10.1016/j.jns.2021.117417
DO - 10.1016/j.jns.2021.117417
M3 - Review article
C2 - 33836316
AN - SCOPUS:85103702821
SN - 0022-510X
VL - 424
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
M1 - 117417
ER -