NEUROPSYCHOLOGY OF HUNTINGTONS DISEASE

过去的努力集中在发展一个特征鲜明的队列， 对亨廷顿氏痴呆综合征患者进行纵向研究 疾病（HD）。 为此，80名HD患者和22名对照组 受试者已被招募。 在接下来的五年里， 将增加早发和晚发年龄的临床核心患者。 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， HD中痴呆的自然史。 这项研究是一项合作努力 这个项目之间。 神经影像学项目和临床核心。 的 这项纵向研究的认知数据将结合 根据临床指标对疾病严重程度进行年度评估 每半年对同一患者进行一次神经影像学检查。 的 将检查认知能力下降的模式和速度， 纹状体和皮质萎缩的严重程度和比率 重复长度（CoreD）和发病年龄的差异率下降 将被确定。 老年痴呆症自然史的描述 HD将有助于临床医生管理患者护理， 特别是与潜在治疗药物的未来临床试验相关， 剂. 自主运动障碍在HD中很突出，但尚未进行检查 广泛地。 损伤的严重程度似乎因患者而异， 跨运动任务。 自愿运动表现将在轻度 中度受影响的患者使用运动障碍量表， 定量神经学检查，肢体失用成套测验，运动学习 任务，以及评估电机的定时编程和排序的任务 行动 运动任务表现将与皮质和 皮质下萎缩，以确定受损的 自愿运动在HD，并以亨廷顿病活动的 日常生活量表，以评估自愿运动障碍对 功能能力。 这些研究将描述这些方面的 自愿运动表现最受影响的HD，并导致更好的 了解自主运动活动的解剖学相关性， 将军

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.