血管周围间隙分布与SCA3的临床特征有关。

IF 3.5 2区 医学 Q2 GENETICS & HEREDITY
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
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引用次数: 0

摘要

背景:脊髓小脑性共济失调3型(SCA3)是一种罕见的神经退行性疾病。先前的研究已经确定血管周围间隙(PVS)的扩张与各种神经退行性疾病的发病机制和预后有关。通过比较患者和匹配的健康对照来检查SCA3中PVS的变化,并确定PVS与临床特征的潜在联系。方法:对91例SCA3患者和64例健康对照者进行MRI扫描。我们利用视觉半定量方法评估了不同脑区的PVS,包括半脑叶中心(CSO)、基底神经节(BG)和中脑-脑桥,以及组合(BG + CSO, BG + CSO +中脑-脑桥)。为了区分SCA3患者与健康对照,我们比较了两组患者工作特征曲线的曲线下面积(AUC)。此外,我们采用Pearson相关系数检验SCA3患者各脑区PVS评分与临床指标之间的关系。结果:在SCA3组中,我们观察到与健康对照组相比,BG、CSO + BG和三个大脑区域的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。结论:本研究初步探讨了PVS与SCA3疾病之间的关系。提示PVS可能在一定程度上反映小脑共济失调的程度。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Distribution of perivascular spaces distribution and relate to the clinical features of SCA3.

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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来源期刊
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases 医学-医学:研究与实验
CiteScore
6.30
自引率
8.10%
发文量
418
审稿时长
4-8 weeks
期刊介绍: Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.
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