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

Orphanet J Rare Dis

Department of Neurology, Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.

Published: August 2025


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Article 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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341106PMC
http://dx.doi.org/10.1186/s13023-025-03954-3DOI Listing

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