NEUROIMAGING IN PERSONS AT RISK FOR HUNTINGTON'S DISEASE

亨廷顿氏病高危人群的神经影像学检查

• 批准号: 2272197
• 负责人: GORDON J HARRIS
• 金额: $ 9.2万
• 依托单位: TUFTS MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-02-01 至 1999-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2272197
• 关键词: Huntington's disease; brain imaging /visualization /scanning; disease /disorder proneness /risk; genetic markers; human subject; longitudinal human study; magnetic resonance imaging; neuropsychological tests; pathologic process; putamen; single photon emission computed tomography

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.

该项目将利用神经成像技术来识别大脑 患有亨廷顿氏病风险的人（HD）异常。这 具体目的包括：最早的神经影像证据的文档 通过DNA识别的人的高清横截面 测试是具有链接的遗传标记，因此很可能 拥有基因；评估大脑的结构变化 （尤其是壳壳）使用磁共振成像（MRI）； 大脑区域脑血流（RCBF）的评估变化 使用单光子发射计算机断层扫描的皮质和基底神经节 （SPECT）;神经成像结果与认知评估的相关性 情绪和运动障碍。受试者将纵向遵循 评估相对于神经影像发生变化的进展或出现 临床症状的进展或出现。没有先验 对有风险的人的定量SPECT或体积MRI研究 亨廷顿氏病，没有任何先前的研究跟踪出现 受试者的神经影像学和临床异常的进展 高清的信息基因检测。 主题将是约翰·霍普金斯（John Hopkins）预测计划的参与者 测试亨廷顿氏病。具有信息丰富的高风险主题 基因测试结果（HD基因的概率> 95％）将被要求 参加神经影像学研究。基因标志物负面（概率 <5％）受试者将用作对照。小组将与年龄相匹配， 性别，种族，教育和社会经济地位。 标记阳性受试者将接受一项SPECT扫描和一个MRI扫描 一年五年。标记阴性控件将在 五年。 MRI扫描将定量测量用于尾状的和 梭子量，双尾比，整个大脑体积和脑脊柱 流体体积。 SPECT扫描将用于区域皮质和 皮质下RCBF值。神经系统和神经心理学测试将是 至少每年给定，结果将与神经成像相关 更改。