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Peripheral metabolic profiles in spinocerebellar ataxia type 3: Features and genotype-phenotype links.

Parkinsonism & related disorders - 1 Apr 2026

Lin Han, Su Qiu-Ni, Zhang Jia-Yi, Lin Wei, Cui Mao-Lin, Qiu Yue, Huang Zhuo-Ying, Ye Bei-Ning, Ye Ying-Xin, Jia Yi-Lin, Zhu Qing-Ying, Li Zhi-Han, Lin Min-Ting, Wang Ning, Shang Xian-Jin, Wang Bing-Long, Gan Shi-Rui

Abstract excerpt

BACKGROUND: Peripheral metabolic dysregulation is increasingly recognized in neurodegenerative disorders, but its contribution to spinocerebellar ataxia type 3 (SCA3) remains unclear. OBJECTIVES: To characterize peripheral metabolic alterations in SCA3 patients, evaluate their diagnostic potential, and assess their association with SCA3 genotypes/phenotypes. METHODS: The cross-sectional study enrolled 101 SCA3...

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PMID: 41690140
DOI: 10.1016/j.parkreldis.2026.108236

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