Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study

Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study

Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a hereditary disease caused by abnormally expanded CAG repeats in the ATXN3 gene. The study aimed to identify potential biomarkers for assessing therapeutic efficacy by investigating the associations between expanded CAG repeat size, brain...

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Main Authors: Zhi-Xian Ye, Xuan-Yu Chen, Meng-Cheng Li, Xin-Yuan Chen, Yu-Sen Qiu, Ru-Ying Yuan, Zhi-Li Chen, Min-Ting Lin, Jian-Ping Hu, Ying Fu, Wan-Jin Chen, Ning Wang, Shi-Rui Gan, on behalf of the OSCCAR Investigators
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
CAG repeat size
Spinal cord
Sample size
MRI
SCA3
Online Access:https://doi.org/10.1186/s13023-025-03531-8
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https://doi.org/10.1186/s13023-025-03531-8

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