Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy.
Mov Disord. 2014 May;29(6):780-6. doi: 10.1002/mds.25757. Epub 2013 Dec 27.
Spinocerebellar ataxia type 2 (SCA2) is an autosomal-dominant degenerative disorder that is neuropathologically characterized primarily by infratentorial damage, although less severe supratentorial involvement may contribute to the clinical manifestation. Diffusion-weighted imaging (DWI)-Magnetic Resonance Imaging (MRI) studies of SCA2 have enabled in vivo quantification of neurodegeneration in infratentorial regions, whereas supratentorial regions have been explored less thoroughly. We measured microstructural changes in both infratentorial and supratentorial regions in 13 SCA2 patients (9 men, 4 women; mean age, 50 ± 12 years) and 15 controls (10 men, 5 women; mean age, 49 ± 14 years) using DWI-MRI and correlated the DWI changes with disease severity and duration. Disease severity was evaluated using the International Cooperative Ataxia Rating Scale and the Inherited Ataxia Clinical Rating Scale. Cerebral diffusion trace ( D¯) values were generated, and regions of interest (ROIs) and voxel-based analysis with Statistical Parametric Mapping (SPM) were used for data analysis. In SCA2 patients, ROI analysis and SPM confirmed significant increases in D¯ values in the pons, cerebellar white matter (CWM) and middle cerebellar peduncles. Moreover, SPM analysis revealed increased D¯ values in the right thalamus, bilateral temporal cortex/white matter, and motor cortex/pyramidal tract regions. Increased diffusivity in the frontal white matter (FWM) and the CWM was significantly correlated with ataxia severity. DWI-MRI revealed that both infratentorial and supratentorial microstructural changes may characterize SCA2 patients in the course of the disease and might contribute to the severity of the symptoms.
脊髓小脑性共济失调 2 型（SCA2）是一种常染色体显性退行性疾病，其神经病理学特征主要为颅后窝损伤，尽管较轻的颅前窝受累可能有助于临床表现。SCA2 的弥散加权成像（DWI）-磁共振成像（MRI）研究使人们能够在体内定量评估颅后窝区域的神经退行性变，而对颅前窝区域的研究则不够深入。我们使用 DWI-MRI 测量了 13 名 SCA2 患者（9 名男性，4 名女性；平均年龄 50±12 岁）和 15 名对照者（10 名男性，5 名女性；平均年龄 49±14 岁）的颅后窝和颅前窝的微观结构变化，并将 DWI 变化与疾病严重程度和病程相关联。疾病严重程度采用国际合作共济失调评分量表和遗传性共济失调临床评分量表进行评估。生成脑弥散轨迹（ D¯）值，并使用感兴趣区域（ROI）和基于体素的统计参数映射（SPM）分析进行数据分析。在 SCA2 患者中，ROI 分析和 SPM 证实了桥脑、小脑白质（CWM）和小脑中间脚的 D¯值显著增加。此外，SPM 分析显示右侧丘脑、双侧颞叶皮层/白质和运动皮层/锥体束区域的 D¯值增加。额叶白质（FWM）和 CWM 的弥散度增加与共济失调严重程度呈显著相关。DWI-MRI 显示，颅后窝和颅前窝的微观结构变化可能在疾病过程中表现出 SCA2 患者的特征，并可能有助于症状的严重程度。
