脊髓小脑性共济失调3型患者脉络丛扩大与运动功能障碍相关。

IF 5.6 2区医学 Q1 NEUROSCIENCES

Neurobiology of Disease Pub Date : 2025-07-28 DOI:10.1016/j.nbd.2025.107044

Zhiming Zhen , Peiling Ou , Yonghua Huang , Lihua Deng (1) , Yue Chen , He Liu , Yanqiu Hua , Wei Chen , Huafu Chen , Peiyu Huang , Zhentao Zuo , Chen Liu

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引用次数: 0

摘要

目的：应用多模态MRI观察SCA3患者脉络膜丛（Choroid plexus， CP）结构变化，探讨CP损伤与运动功能障碍的相关性。方法：我们前瞻性地招募了64名SCA3患者和50名年龄和性别匹配的健康对照（hc）。使用FreeSurfer 7.3测量脑CP体积（CPV）和其他脑区，使用FSL分析自由水（FW）成像指标。我们比较症状前SCA3组、症状性SCA3组和HC组的CPV和FW成像指标的差异。偏相关、结构方程建模和多元回归分析了CPV、CAG重复数、脑结构和运动量表之间的关系。结果：与hcc和症状前患者相比，有症状的SCA3患者的CPV、FW和freewater校正的各向异性（FAt）显著增加。CPV与CAG重复数、脑脊液体积、运动障碍呈正相关，与小脑和脑干体积负相关。结构方程模型显示CPV通过影响脑脊液容量介导CAG重复序列对运动功能的影响。CP和脑干体积是运动功能的独立预测因子，可以区分症状前和症状患者。解释：这项研究首次证明了CP增大是SCA3运动功能障碍的一种新的生物标志物。CP可能通过影响脑脊液循环和脑内稳态参与SCA3的发病机制。靶向CP可能是SCA3的潜在治疗策略。临床试验注册[www.Clinicaltrials: gov]，标识符[ChiCTR1800019901]。

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Choroid plexus enlargement correlated with motor dysfunction in spinocerebellar ataxia type 3

Objective

To investigate Choroid plexus (CP) structural changes using multimodal MRI, and assess the correlation between CP damage and motor dysfunction in SCA3 patients.

Methods

We prospectively recruited 64 SCA3 patients and 50 age- and sex-matched healthy controls (HCs). CP volume (CPV) and other brain regions were measured using FreeSurfer 7.3, while free-water (FW) imaging metrics were analyzed with FSL. We compared the differences in CPV and FW imaging metrics among the pre-symptomatic SCA3 group, symptomatic SCA3 group, and HC group. Partial correlation, structural equation modeling, and multivariate regression explored the relationships among CPV, CAG repeats, brain structures, and motor scales.

Results

CPV, FW, and Freewater-corrected Anisotropy (FAt) were significantly increased in symptomatic SCA3 patients compared to HCs and pre-symptomatic patients. CPV was positively correlated with CAG repeats, CSF volume, motor impairment and negatively correlated with cerebellar and brainstem volumes. Structural equation modeling revealed that CPV mediated the effect of CAG repeats on motor function by influencing CSF volume. CP and brainstem volumes were independent predictors of motor function and could distinguish pre-symptomatic from symptomatic patients.

Interpretation

This study first demonstrates that CP enlargement is a novel biomarker of motor dysfunction in SCA3. The CP may be involved in the pathogenesis of SCA3 by affecting CSF circulation and brain homeostasis. Targeting the CP could be a potential therapeutic strategy for SCA3.

Clinical trials registration

[www.ClinicalTrials.gov], identifier [ChiCTR1800019901].

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来源期刊

Neurobiology of Disease 医学-神经科学

CiteScore

11.20

自引率

3.30%

发文量

270

审稿时长

76 days

期刊介绍： Neurobiology of Disease is a major international journal at the interface between basic and clinical neuroscience. The journal provides a forum for the publication of top quality research papers on: molecular and cellular definitions of disease mechanisms, the neural systems and underpinning behavioral disorders, the genetics of inherited neurological and psychiatric diseases, nervous system aging, and findings relevant to the development of new therapies.