NEUROPSYCHOLOGY OF HUNTINGTONS DISEASE

亨廷顿病的神经心理学

• 批准号: 6243501
• 负责人: JASON BRANDT
• 金额: $ 19.25万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-01-01 至 1997-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6243501
• 关键词: Huntington's disease; abnormal involuntary movement; age difference; basal ganglia; cerebral cortex; cerebral degeneration; clinical research; cognition disorders; dementia; functional ability; human subject; longitudinal human study; magnetic resonance imaging; nervous system disorder diagnosis; neuroanatomy; neuropsychological tests; nucleic acid repetitive sequence; pathologic process; prognosis; psychomotor function

Past efforts have focused on developing a well-characterized cohort of patients for longitudinal studies of the dementia syndrome of Huntington's disease (HD). To that end, groups of 80 HD patients and 22 control subjects have been recruited. In the next five years, the patient sample will be augmented with patients of early and late onset age Clinical Core. We will follow that cohort of 150 patients and 40 gene-negative controls in our Longitudinal Core Study to characterize, for the first time, the natural history of dementia in HD. This study is a collaborative effort between this Project. Neuroimaging Project and the Clinical Core. The cognitive data from this longitudinal study will be analyzed in conjunction with the annual assessments of disease severity as indexed by clinical measures (neuroimaging) obtained biannually on the same patients. The pattern and rate of cognitive decline will be examined, and the relative contributions of severity and rate of striatal and cortical atrophy, CAG repeat length (CoreD), and onset age to differences in rates of decline will be determined. The delineation of the natural history of dementia in HD will be helpful to clinicians in managing patient care, and will be particularly relevant for future clinical trials of potential therapeutic agents. Voluntary motor impairment is prominent in HD, but has not been examined extensively. Severity of impairment appears to vary across patients and across motor tasks. Voluntary motor performance will be assessed in mildly to moderately affected patients using the motor impairment scale from the Quantitated Neurological Exam, a limb apraxia battery, motor learning tasks, and tasks assessing the timing programming and sequencing of motor actions. Motor task performance will be related to cortical and subcortical atrophy to determine the anatomical correlates of impaired voluntary movement in HD, and to the Huntington's Disease Activities of Daily Living Scale to assess the impact of voluntary motor impairment on functional abilities. These studies will delineate those aspects of voluntary motor performance most affected in HD and lead to a better understanding of the anatomical correlates of voluntary motor activity in general.

过去的努力主要集中在培养一批具有良好特征的 亨廷顿痴呆症综合征患者的纵向研究 疾病（HD）。 为此，80 名 HD 患者和 22 名对照者组成的小组 受试者已被招募。 未来五年内，患者样本 将增加早发和晚发年龄的患者临床核心。 我们将跟踪 150 名患者和 40 名基因阴性对照的队列 我们的纵向核心研究首次描述了 HD 痴呆的自然史。 这项研究是一项合作努力 本项目之间。 神经影像项目和临床核心。 这 这项纵向研究的认知数据将结合分析 根据临床指标对疾病严重程度进行年度评估 对同一患者每半年进行一次测量（神经影像学）。 这 将检查认知能力下降的模式和速度，以及相对 纹状体和皮质萎缩（CAG）的严重程度和发生率的贡献 重复长度 (CoreD) 和发病年龄对下降率差异的影响 将被确定。 痴呆自然史的描述 HD 将有助于临床医生管理患者护理，并将 与潜在治疗的未来临床试验特别相关 代理。 自愿运动障碍在 HD 中很突出，但尚未得到检查 广泛地。 损伤的严重程度似乎因患者而异 跨运动任务。 自愿运动表现将在温和的情况下进行评估 对于中度受影响的患者，使用来自 定量神经学检查、肢体失用症电池、运动学习 任务以及评估电机时序编程和排序的任务 行动。 运动任务表现将与皮质和 皮质下萎缩以确定受损的解剖学相关性 HD 中的自愿运动以及亨廷顿病活动 日常生活量表评估自愿运动障碍对 功能能力。 这些研究将描述这些方面 自愿运动表现在 HD 中受影响最大，并导致更好的 了解自愿运动活动的解剖学相关性 一般的。