de Borba Fabrício Castro, Fernandes Joyce Macedo Sanches, de Rezende Thiago Junqueira Ribeiro, González-Salazar Carelis, de Melo Teixeira Branco Lucas, Wolmer Paulo Schneider, Pedroso José Luiz, Barsottini Orlando Graziani Povoas, França Junior Marcondes Cavalcante
Faculdade de Ciências Médicas da UNICAMP, Departamento de Neurologia da FCM/UNICAMP, Department of Neurology, Universidade Estadual de Campinas, University of Campinas, Cidade Universitária s/n Caixa Postal, 6111 Barão Geraldo, 13083970, Campinas, SP, Brasil.
Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), São Paulo, Brazil.
J Neurol. 2024 Dec 12;272(1):6. doi: 10.1007/s00415-024-12791-6.
Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by progressive ataxia. Although previous studies have focused on cerebral and cerebellar damage, spinal cord involvement in SCAs remains underexplored.
This study aims to characterize spinal cord abnormalities in SCA2, SCA3, and SCA6 and to identify its phenotypic correlates.
We conducted a multimodal spinal neuroimaging study on 26 SCA3, 16 SCA2, and 14 SCA6 patients, along with matched healthy controls. MRI scanning was performed using a 3 Tesla device, and the Spinal Cord Toolbox (SCT) was employed for morphometric and diffusivity analyses of the cervical spinal cord.
Our findings revealed significant spinal cord atrophy and altered white matter microstructural metrics in SCA3 and SCA2 patients compared to controls, with no abnormalities in SCA6. A strong negative correlation was observed between cross-sectional cord area and disease duration in SCA2, suggesting its potential as a biomarker for disease progression.
This study highlights the importance of spinal cord imaging in understanding the pathophysiology of SCAs and demonstrates the utility of MRI-based metrics in identifying structural deviations and their clinical correlates. Further longitudinal studies are needed to validate these findings and explore their implications for clinical trials and therapeutic interventions.
脊髓小脑共济失调（SCAs）是一组以进行性共济失调为特征的神经退行性疾病。尽管先前的研究主要关注大脑和小脑损伤，但脊髓在SCAs中的受累情况仍未得到充分探索。
本研究旨在描述SCA2、SCA3和SCA6患者的脊髓异常情况，并确定其表型相关性。
我们对26例SCA3、16例SCA2和14例SCA6患者以及匹配的健康对照者进行了多模态脊髓神经影像学研究。使用3特斯拉设备进行MRI扫描，并使用脊髓工具箱（SCT）对颈髓进行形态学和扩散分析。
我们的研究结果显示，与对照组相比，SCA3和SCA2患者存在明显的脊髓萎缩和白质微结构指标改变，而SCA6患者未发现异常。在SCA2中，观察到脊髓横截面积与病程之间存在强烈的负相关，表明其有可能作为疾病进展的生物标志物。
本研究强调了脊髓成像在理解SCAs病理生理学中的重要性，并证明了基于MRI的指标在识别结构偏差及其临床相关性方面的实用性。需要进一步的纵向研究来验证这些发现，并探索其对临床试验和治疗干预的意义。
