BRAIN IMAGING IN ASYMPTOMATIC CARRIERS OF HUNTINGTON'S DISEASE

本研究检查了无症状亨廷顿氏病基因突变患者基底节区体积（使用MRI）和局部脑血流（使用SPECT）的纵向变化。我们研究了25例HD突变携带者和29例非携带者。在突变携带者中，有21例2年随访扫描；15年-3年随访扫描；4年随访扫描9次；5年随访扫描。19例非携带者完成了3年随访扫描。在扫描的同时，我们获得了每个人的神经心理学、神经学和社会心理数据。在我们的初步分析中，我们估计了突变携带者的发病年龄，并评估了其与影像学指标变化的关系。在发病未满6年的携带者中，壳核体积、尾状核体积和双核核比例显著降低。血流量测量受基因状况或发病时间的影响较小。结果表明，定量评估基底神经节体积可能为症状前亨廷顿病提供一个标志。一篇题为“症状前、基因检测的亨廷顿病风险人群基底神经节血流量和血容量减少”的手稿发表在《大脑》杂志上。更多的分析正在进行中。

This study examined longitudinal changes in basal ganglia volumes (using MRI) and regional cerebral blood flow (using SPECT) in asymptomatic persons with and without the Huntington's disease genetic mutation. We studied 25 HD mutation-carriers and 29 non-carriers. Among the mutation carriers, there have been 21 Year-2 follow-up scans; 15 Year-3 follow-up scans; 9 Year-4 follow-up scans; and 5 Year-5 follow-up scans. Year-3 follow-up scans have been completed on 19 non-carriers. Concurrent with the scans, we obtained neuropsychological, neurological, and psychosocial data on each person. For our initial analyses, we estimated years-to-onset in mutation carriers and evaluated its relationship to changes in imaging measures. Putamen volume, caudate volume and bicaudate ratio were significantly reduced in carriers 6 or fewer years from onset. Blood flow measurements were less affected by genet status or years-to-onset. The results suggest that quantitative assessment of basal ganglia volume may provide a marker for presymptomatic Huntington's disease. A manuscript, entitled "Reduced basal ganglia blood flow and volume in presymptomatic, gene-tested persons at risk for Huntington's disease," is in press in Brain. Additional analyses are underway.