BRAIN IMAGING IN ASYMPTOMATIC CARRIERS OF HUNTINGTON'S DISEASE

这项研究检测了有和没有亨廷顿病基因突变的无症状者的基底节体积(MRI)和局部脑血流量(SPECT)的纵向变化。我们研究了25名HD突变携带者和29名非携带者。在突变携带者中，有21次2年随访扫描；15次3年随访扫描；9次4年随访扫描；5年5次随访扫描。已经完成了对19名非携带者的3年后续扫描。在扫描的同时，我们获得了每个人的神经心理学、神经学和心理社会数据。在我们的初步分析中，我们估计了突变携带者发病的年限，并评估了它与影像测量变化的关系。在发病6年或以下的携带者中，壳核体积、尾状体积和双尾状比率显著减少。血流测量受基因状态或发病年限的影响较小。结果提示，基底节体积的定量评估可能为症状前亨廷顿病提供一个标志物。一篇题为《无症状、经基因检测的亨廷顿病风险人群的基底节血流量和体积减少》的手稿正在大脑中出版。其他分析正在进行中。

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.