Department of Advanced Biomedical Sciences, University "Federico II", Naples, Italy.
IRCCS, Fondazione Don Carlo Gnocchi, ONLUS, Milan, Italy.
Parkinsonism Relat Disord. 2020 Nov;80:152-157. doi: 10.1016/j.parkreldis.2020.09.033. Epub 2020 Sep 23.
In recent years, cerebellar abnormalities have gained increasing attention as possible physiopathological substratum of idiopathic cervical dystonia (ICD), but a consistent pattern of cerebellar structural modifications has not yet been established. We systematically investigated the presence of volumetric alterations of cerebellar gray (GM) and white matter (WM) in ICD patients, as well as their clinical relevance.
In this two-centers prospective cross-sectional study, from May 2013 to December 2017, 27 patients with ICD and 27 age- and sex-comparable healthy controls underwent brain MRI including 3D T1-weighted sequences for volumetric analyses. Between-group differences in terms of gray matter and cerebellar peduncles volumes were investigated using both region of interest (ROI)-based and voxel-based approaches using the SUIT tool (SPM12), and significant volumetric changes were correlated with clinical impairment (as measured with the Tsui score) and presence of tremor.
ICD patients showed significant volumetric reduction of cerebellar GM in the anterior lobe and lobule VI, resulting from both ROI-based (p ≤ 0.009) and voxel-based (p ≤ 0.04) analyses, while small clusters of reduced WM volume were found in the right cerebellum and left midbrain (p = 0.04), along with reduced volume of the bilateral superior (p = 0.04) and middle (p = 0.03) cerebellar peduncles. Furthermore, higher middle cerebellar peduncles volume was associated with the presence of tremor (p = 0.04).
Our data show evidence of a specific pattern of cerebellar structural abnormalities in ICD patients, with volume loss mainly involving cortical GM regions related to the somatotopic representation of the affected body parts and, to a lesser extent, cerebellar peduncles.
近年来，小脑异常作为特发性颈肌张力障碍（ICD）的可能病理生理基础受到越来越多的关注，但尚未确定小脑结构改变的一致模式。我们系统地研究了 ICD 患者小脑灰质（GM）和白质（WM）体积改变的存在及其临床意义。
在这项由两个中心参与的前瞻性横断面研究中，于 2013 年 5 月至 2017 年 12 月，27 例 ICD 患者和 27 例年龄和性别匹配的健康对照者接受了脑 MRI 检查，包括用于容积分析的 3D T1 加权序列。使用基于感兴趣区（ROI）和基于体素的方法（使用 SUIT 工具（SPM12））研究了灰质和小脑脚体积方面的组间差异，并且显著的体积变化与临床损害（用 Tsui 评分测量）和震颤的存在相关。
ICD 患者小脑 GM 在前方叶和 VI 叶的体积出现显著减小，这是基于 ROI（p≤0.009）和基于体素（p≤0.04）的分析结果，而右小脑和左中脑存在较小的 WM 体积减少簇（p=0.04），双侧上（p=0.04）和中（p=0.03）小脑脚的体积也减少。此外，较高的中脑小脑脚体积与震颤的存在相关（p=0.04）。
我们的数据显示，ICD 患者存在特定的小脑结构异常模式，体积损失主要涉及与受影响身体部位的躯体代表相关的皮质 GM 区域，其次是小脑脚。
