Abstract：
Increasing neuroimaging studies have attempted to identify biomarkers of Huntington\'s disease (HD) progression. Here, we conducted voxel-based meta-analyses of voxel-based morphometry (VBM) studies on HD to investigate the evolution of gray matter volume (GMV) alterations and explore the effects of genetic and clinical features on GMV changes. A systematic review was performed to identify the relevant studies. Meta-analyses of whole-brain VBM studies were performed to assess the regional GMV changes in all HD mutation carriers, in presymptomatic HD (pre-HD), and in symptomatic HD (sym-HD). A quantitative comparison was performed between pre-HD and sym-HD. Meta-regression analyses were used to explore the effects of genetic and clinical features on GMV changes. Twenty-eight studies were included, comparing a total of 1811 HD mutation carriers [including 1150 pre-HD and 560 sym-HD] and 969 healthy controls (HCs). Pre-HD showed decreased GMV in the bilateral caudate nuclei, putamen, insula, anterior cingulate/paracingulate gyri, middle temporal gyri, and left dorsolateral superior frontal gyrus compared with HCs. Compared with pre-HD, GMV decrease in sym-HD extended to the bilateral median cingulate/paracingulate gyri, Rolandic operculum and middle occipital gyri, left amygdala, and superior temporal gyrus. Meta-regression analyses found that age, mean lengths of CAG repeats, and disease burden were negatively associated with GMV atrophy of the bilateral caudate and right insula in all HD mutation carriers. This meta-analysis revealed the pattern of GMV changes from pre-HD to sym-HD, prompting the understanding of HD progression. The pattern of GMV changes may be biomarkers for disease progression in HD.
摘要：
越来越多的神经影像学研究试图确定亨廷顿病（HD）进展的生物标志物。这里,我们对HD的基于体素的形态计量学(VBM)研究进行了基于体素的荟萃分析,以研究灰质体积(GMV)改变的演变,并探讨遗传和临床特征对GMV改变的影响.进行了系统评价以确定相关研究。进行了全脑VBM研究的荟萃分析，以评估所有HD突变携带者的区域GMV变化。在症状前HD（HD前），和有症状的HD（sym-HD）。在pre-HD和sym-HD之间进行定量比较。Meta回归分析用于探讨遗传和临床特征对GMV变化的影响。包括28项研究，比较了总共1811例HD突变携带者[包括1150例HD前和560例sym-HD]和969例健康对照(HCs)。Pre-HD显示双侧尾状核GMV降低，壳核,脑岛,前扣带/副带回，颞中回,与HCs相比，左额上回和背外侧。与pre-HD相比，sym-HD的GMV下降延伸至双侧正中扣带/副带回，Rolandic手术和枕中回，左杏仁核,和颞上回.荟萃回归分析发现，年龄，CAG重复的平均长度，在所有HD突变携带者中，疾病负担与双侧尾状和右侧岛叶的GMV萎缩呈负相关。这项荟萃分析揭示了GMV从HD前到sym-HD的变化模式，促进对HD进展的理解。GMV变化的模式可能是HD疾病进展的生物标志物。
