Chen Xinyuan, Lian Yanhua, Lin Wei, Xia Xiaoyue, Zhang Lin, Huang Zhuoying, Cui Maolin, Yuan Ruying, Li Mengcheng, Huang Ziqiang, Chen Naping, Tu Yuqing, Hu Jianping, Wang Ning, Chen Qunlin, Gan Shirui
Department of Rehabilitation Medicine, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China.
National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, 350212, China.
Orphanet J Rare Dis. 2025 Aug 11;20(1):423. doi: 10.1186/s13023-025-03954-3.
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.
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.
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.
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.
3型脊髓小脑共济失调（SCA3）是一种罕见的神经退行性疾病。先前的研究已证实，血管周围间隙（PVS）扩张与各种神经退行性疾病的发病机制和预后有关。通过比较SCA3患者和匹配的健康对照，研究SCA3中PVS的变化，并确定PVS与临床特征的潜在联系。
我们对91例SCA3患者和64名健康对照进行了MRI扫描。我们采用视觉半定量方法评估多个脑区的PVS，包括半卵圆中心（CSO）、基底节（BG）和中脑脑桥，以及联合区域（BG + CSO、BG + CSO + 中脑脑桥）。为了区分SCA3患者和健康对照，我们比较了两组之间的受试者操作特征曲线下面积（AUC）。此外，我们采用Pearson相关系数来研究每个脑区的PVS评分与SCA3患者临床指标之间的关系。
在SCA3组中，我们观察到与健康对照组相比，BG、CSO + BG以及三个脑区的PVS水平更高。CSO和CSO + BG中的PVS也与年龄和病程呈正相关，与CAG重复次数呈负相关。此外，三个脑区的PVS与CAG重复次数呈负相关。
本研究是对PVS与SCA3疾病之间关系的初步调查。我们的研究结果表明，PVS可能在一定程度上指示小脑共济失调的程度。
