Minkova Lora, Eickhoff Simon B, Abdulkadir Ahmed, Kaller Christoph P, Peter Jessica, Scheller Elisa, Lahr Jacob, Roos Raymund A, Durr Alexandra, Leavitt Blair R, Tabrizi Sarah J, Klöppel Stefan
Department of Psychiatry and Psychotherapy, University Medical Center Freiburg, Freiburg, Germany.
Freiburg Brain Imaging Center, University Medical Center Freiburg, Freiburg, Germany.
Hum Brain Mapp. 2016 Jan;37(1):67-80. doi: 10.1002/hbm.23014. Epub 2015 Oct 10.
Huntington's disease (HD) is a progressive neurodegenerative disorder that can be diagnosed with certainty decades before symptom onset. Studies using structural MRI have identified grey matter (GM) loss predominantly in the striatum, but also involving various cortical areas. So far, voxel-based morphometric studies have examined each brain region in isolation and are thus unable to assess the changes in the interrelation of brain regions. Here, we examined the structural covariance in GM volumes in pre-specified motor, working memory, cognitive flexibility, and social-affective networks in 99 patients with manifest HD (mHD), 106 presymptomatic gene mutation carriers (pre-HD), and 108 healthy controls (HC). After correction for global differences in brain volume, we found that increased GM volume in one region was associated with increased GM volume in another. When statistically comparing the groups, no differences between HC and pre-HD were observed, but increased positive correlations were evident for mHD, relative to pre-HD and HC. These findings could be explained by a HD-related neuronal loss heterogeneously affecting the examined network at the pre-HD stage, which starts to dominate structural covariance globally at the manifest stage. Follow-up analyses identified structural connections between frontoparietal motor regions to be linearly modified by disease burden score (DBS). Moderator effects of disease load burden became significant at a DBS level typically associated with the onset of unequivocal HD motor signs. Together with existing findings from functional connectivity analyses, our data indicates a critical role of these frontoparietal regions for the onset of HD motor signs.
亨廷顿舞蹈症(HD)是一种进行性神经退行性疾病,在症状出现前几十年就能被确诊。使用结构磁共振成像(MRI)的研究已确定主要在纹状体出现灰质(GM)损失,同时也涉及多个皮质区域。到目前为止,基于体素的形态测量研究都是单独检查每个脑区,因此无法评估脑区之间相互关系的变化。在此,我们研究了99例显性亨廷顿舞蹈症(mHD)患者、106例症状前基因突变携带者(pre-HD)和108名健康对照者(HC)在预先指定的运动、工作记忆、认知灵活性和社会情感网络中GM体积的结构协方差。在校正脑容量的整体差异后,我们发现一个区域GM体积增加与另一个区域GM体积增加相关。在对各组进行统计学比较时,未观察到HC和pre-HD之间存在差异,但相对于pre-HD和HC,mHD的正相关性增加明显。这些发现可以解释为与HD相关的神经元损失在pre-HD阶段异质性地影响所检查的网络,在显性阶段开始在整体上主导结构协方差。后续分析确定额顶叶运动区域之间的结构连接会被疾病负担评分(DBS)线性改变。疾病负荷负担的调节作用在通常与明确的HD运动体征发作相关的DBS水平上变得显著。结合功能连接分析的现有发现,我们的数据表明这些额顶叶区域在HD运动体征发作中起关键作用。