Scaravilli Alessandra, Mari Gaia, Gabusi Ilaria, Battocchio Matteo, Bosticardo Sara, Schiavi Simona, Bender Benjamin, Kessler Christoph, La Piana Roberta, van de Warrenburg Bart P, Cosottini Mirco, Timmann Dagmar, Daducci Alessandro, Schüle Rebecca, Synofzik Matthis, Santorelli Filippo Maria, Cocozza Sirio
Department of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.
Department of Computer Science, Diffusion Imaging and Connectivity Estimation (DICE) lab, University of Verona, Verona, Italy.
Eur J Neurol. 2025 Apr;32(4):e70128. doi: 10.1111/ene.70128.
Spasticity represents a core clinical feature of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) patients. Nonetheless, its pathophysiological substrate is poorly investigated. We assessed the microstructural integrity of the corticospinal tract (CST) using diffusion MRI (dMRI) via profilometry analysis to understand its possible role in the development of spasticity in ARSACS.
In this multi-center prospective study, data of 37 ARSACS (M/F = 21/16; 33.4 ± 12.4 years) and 29 controls (M/F = 13/16; 42.1 ± 17.2 years) acquired within the PROSPAX consortium were collected from January 2021 to October 2022 and analyzed. Differences in terms of global CST microstructural integrity were probed, as well as a possible spatial distribution of the damage along the tract via profilometry analysis. Possible correlations between clinical severity, including the Spastic Paraplegia Rating Scale (SPRS), were also tested.
A significant global involvement of the CST was found in ARSACS compared to controls (all tests with p < 0.001), with a spatially defined pattern of more pronounced microstructural integrity loss occurring right below and above the pons, a structure that was also confirmed to be thickened in these patients (p < 0.001). A bilateral negative correlation emerged between the microstructural integrity of the CST and clinical indices of spasticity expressed via SPRS (p = 0.02 for both CSTs).
A clinically meaningful microstructural involvement of CST is present in ARSACS patients, with a spatially defined pattern of damage occurring right below and above a thickened pons. An evaluation of the microstructure of this bundle might serve as a possible biomarker in this condition.
痉挛是魁北克-萨格奈常染色体隐性痉挛性共济失调（ARSACS）患者的核心临床特征。然而，其病理生理基础的研究较少。我们通过轮廓测量分析，使用扩散磁共振成像（dMRI）评估皮质脊髓束（CST）的微观结构完整性，以了解其在ARSACS痉挛发展中的可能作用。
在这项多中心前瞻性研究中，收集了2021年1月至2022年10月在PROSPAX联盟内获取的37例ARSACS患者（男/女=21/16；33.4±12.4岁）和29例对照者（男/女=13/16；42.1±17.2岁）的数据并进行分析。探究了CST整体微观结构完整性方面的差异，以及通过轮廓测量分析损伤沿束的可能空间分布。还测试了包括痉挛性截瘫评定量表（SPRS）在内的临床严重程度之间的可能相关性。
与对照组相比，ARSACS患者的CST存在显著的整体受累（所有测试p<0.001），在脑桥下方和上方出现了空间上定义的更明显的微观结构完整性丧失模式，该结构在这些患者中也被证实增厚（p<0.001）。CST的微观结构完整性与通过SPRS表达的痉挛临床指标之间出现了双侧负相关（两个CST的p值均为0.02）。
ARSACS患者存在具有临床意义的CST微观结构受累，在增厚的脑桥下方和上方出现了空间上定义的损伤模式。对该束微观结构的评估可能作为这种情况下的一种潜在生物标志物。
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