Orphanet Journal of Rare Diseases (Aug 2025)

Distribution of perivascular spaces distribution and relate to the clinical features of SCA3

  • Xinyuan Chen,
  • Yanhua Lian,
  • Wei Lin,
  • Xiaoyue Xia,
  • Lin Zhang,
  • Zhuoying Huang,
  • Maolin Cui,
  • Ruying Yuan,
  • Mengcheng Li,
  • Ziqiang Huang,
  • Naping Chen,
  • Yuqing Tu,
  • Jianping Hu,
  • Ning Wang,
  • Qunlin Chen,
  • Shirui Gan

DOI
https://doi.org/10.1186/s13023-025-03954-3
Journal volume & issue
Vol. 20, no. 1
pp. 1 – 9

Abstract

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Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative condition. Prior research has established perivascular spaces (PVS) expansion has been implicated in the pathogenesis and prognosis of various neurodegenerative diseases. To examine PVS changes in SCA3 by comparing patients and matched healthy controls and to identify potential connection of PVS for clinical features. Methods We conducted MRI scans on 91 SCA3 patients and 64 healthy controls. We utilized visual semi-quantitative methods to assess PVS in various brain regions, including the center of the semiovale (CSO), basal ganglia (BG), and midbrain-pons, as well as combinations (BG + CSO, BG + CSO + midbrain-pons). To differentiate SCA3 patients from healthy controls, we compared the area under the curve (AUC) of the receiver operating characteristic curve between the two groups. Additionally, we employed Pearson’s correlation coefficient to examine the relationship between PVS scores in each brain region and clinical indicators among SCA3 patients. Results In the SCA3 group, we observed higher levels of PVS in the BG, CSO + BG, and three brain regions compared to the healthy control group. PVS in the CSO and CSO + BG also showed positive correlations with age and disease duration, and negative correlations with the number of CAG repeats. Furthermore, PVS in three brain regions exhibited negative correlation with the number of CAG repeats. Conclusions This study represents an initial investigation into the relationship between PVS and SCA3 disease. Our findings suggest that PVS might indicate the degree of cerebellar ataxia to a certain extent.