Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study
Zhi-Xian Ye,
Xuan-Yu Chen,
Meng-Cheng Li
et al.
Abstract:Background: Spinocerebellar ataxia type 3 (SCA3) is a hereditary polyglutamine disease, caused by abnormally expanded cytosine–adenine–guanine (CAG) repeats in ATXN3 gene. It is classically characterized by cerebellar and spinal cord atrophy and presents with progressive ataxia. we here investigated the associations between expanded CAG repeat size, brain and spinal cord volume loss, and motor functions in SCA3.
Methods: In this prospective cross-observational study, we analyzed 3D T1-weighted MRIs from 92 pat… Show more
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