NEUROIMAGING IN PERSONS AT RISK FOR HUNTINGTON'S DISEASE

这个项目将利用神经成像技术来识别大脑 在有患亨廷顿病（HD）风险的人中的异常。的 具体目标包括：记录最早的神经影像学证据 在通过DNA鉴定的人中， 测试有连锁遗传标记，因此很可能 具有该基因;评估大脑中的结构变化 （特别是壳核）使用磁共振成像（MRI）; 脑局部血流量（rCBF）变化的评价 皮质和基底节单光子发射计算机断层扫描 （SPECT）;神经成像结果与认知评估的相关性， 情绪和运动障碍将对受试者进行纵向随访 评估神经影像学变化的进展或出现， 临床症状的进展或出现。在此之前 定量SPECT或体积MRI研究在有风险的人 亨廷顿病，也没有任何先前的研究跟踪的出现， 受试者的神经影像学和临床异常进展 HD的基因检测信息。 受试者将参加约翰霍普金斯计划的预测 进行亨廷顿舞蹈症的检测具有信息的高风险受试者 基因检测结果（HD基因的概率> 95%）将被要求 参与神经影像学研究。基因标记阴性（概率 < 5%）的受试者将用作对照。各组将按年龄配对， 性别、种族、教育和社会经济地位。 标记物阳性受试者将分别接受一次SPECT扫描和一次MRI扫描 一年五年。标记物阴性对照将接受2对扫描， 五年MRI扫描将定量测量尾状核和 壳核体积、双尾状核比率、全脑体积和脊髓背角体积 流体体积。将对SPECT扫描的区域皮质和 皮质下rCBF值。神经学和神经心理学测试将 至少每年一次，结果将与神经影像学相关联 变化

This project will utilize neuroimaging techniques to identify brain abnormalities in persons at risk for Huntington's disease (HD). The specific aims include: Documentation of the earliest neuroimaging evidence of HD cross-sectionally in persons who have been identified through DNA testing as having the linked genetic marker, and therefore very likely having the gene; evaluation of structural changes in the brain (particularly the putamen) using magnetic resonance imaging (MRI); evaluation of regional cerebral blood flow (rCBF) changes in the cerebral cortex and basal ganglia using single photon emission computed tomography (SPECT); correlation of neuroimaging results with assessment of cognitive, emotional, and motor impairment. Subjects will be followed longitudinally to assess progression or emergence of neuroimaging changes relative to progression or emergence of clinical symptoms. There have been no prior quantitative SPECT or volumetric MRI studies in persons at risk for Huntington's disease, nor has any prior study tracked the emergence and progression of neuroimaging and clinical abnormalities in subjects with informative genetic tests for HD. Subjects will be participants in the Johns Hopkins program of predictive testing for Huntington's disease. At-risk subjects who have informative genetic testing results (probability > 95% for HD gene) will be asked to participate in the neuroimaging study. Gene-marker negative (probability < 5%) subjects will be used as controls. Groups will be matched for age, sex, race, education and socio-economic status. Marker-positive subjects will receive one SPECT scan and one MRI scan each year for five years. Marker-negative controls will receive 2 scan pairs in five years. MRI scans will be quantitatively measured for caudate and putamen volumes, bicaudate ratio, whole brain volume and cerebro-spinal fluid volume. SPECT scans will be rated for regional cortical and subcortical rCBF values. Neurologic and neuropsychological tests will be given at least annually, and results will be correlated with neuroimaging changes.