BRAIN STRUCTURE, FUNCTION IN CHILDREN, ADOLESCENTS, YOUNG ADULTS AT RISK FOR HD

患有 HD 风险的儿童、青少年和年轻人的大脑结构和功能

• 批准号: 7604873
• 负责人: PEGGY C NOPOULOS
• 金额: $ 0.39万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2007-09-16
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7604873
• 关键词: Adolescent; Age; Behavior assessment; Brain; Brain Diseases; Brain region; Cerebral cortex; Cerebrum; Child; Cognitive; Computer Retrieval of Information on Scientific Projects Database; Corpus striatum structure; Development; Diffusion Magnetic Resonance Imaging; Disease; Etiology; Evaluation; Funding; Genes; Grant; Huntington Disease; Institution; Magnetic Resonance Imaging; Measures; Motor; Neurodegenerative Disorders; Neurologic; Onset of illness; Research; Research Personnel; Resources; Risk; Signs and Symptoms; Source; Structure; Testing; Triad Acrylic Resin; United States National Institutes of Health; concept; gray matter; white matter; young adult

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Huntington's disease (HD) is an autosomal dominant disease manifested in a triad of cognitive, psychiatric, and motor signs and symptoms. This disease has classically been conceptualized as a "neurodegenerative disease of the striatum". However, recent evidence challenges this concept. First, several lines of evidence have suggested that there may be an important developmental component to the etiology of this disease. For example, studies show that subjects who are gene positive for HD but have not yet manifested the illness (pre-HD subjects) have significant changes in the structure of their brain, specifically decreased volume of cerebral white matter and increased volume of cerebral cortex. These changes support the notion that the brain of these subjects did not develop properly, although an alternative explanation is that degeneration begins decades before manifest onset of the disease. Second, the changes that are seen in the brain of pre-HD subjects are most prominent in extra-triatal regions of the brain - the cerebral white matter and the cerebral gray matter. In an effort to better understand the developmental aspects of this brain disease, the current study proposes to evaluate brain structure and function in children, adolescents, and young adults (ages 6-25) who are at risk for developing HD. Brain structure will be evaluated using magnetic resonance imaging (MRI) with quantitative measures of the entire brain, cerebral cortex, as well as white matter integrity via Diffusion Tensor Imaging. Brain function will be assessed by cognitive tests, neurological evaluation, and behavioral assessment. Subjects that are gene positive will be compared to subjects who are gene negative and to matched healthy controls. Changes in brain structure and/or function in the gene positive group would lend significant support to the notion that this disease has an important developmental component.

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 亨廷顿氏病（HD）是一种常染色体显性遗传疾病，表现为认知、精神和运动三联征和症状。 这种疾病在经典上被概念化为“纹状体的神经退行性疾病”。 然而，最近的证据挑战了这一概念。 首先，有几条证据表明，可能有一个重要的发展组成部分，这种疾病的病因。 例如，研究表明，HD基因阳性但尚未表现出疾病的受试者（HD前受试者）的大脑结构发生了显著变化，特别是大脑白色物质体积减少和大脑皮质体积增加。 这些变化支持了这样一种观点，即这些受试者的大脑没有正常发育，尽管另一种解释是退化在疾病明显发作之前几十年就开始了。 第二，在HD前受试者的大脑中观察到的变化在大脑的颅外区域-大脑白色物质和大脑灰质中最为突出。 为了更好地了解这种脑部疾病的发育方面，当前的研究建议评估有患HD风险的儿童、青少年和年轻人（6-25岁）的大脑结构和功能。 将使用磁共振成像（MRI）评价脑结构，通过弥散张量成像定量测量整个大脑、大脑皮质以及白色物质完整性。 将通过认知测试、神经学评估和行为评估来评估脑功能。 将基因阳性受试者与基因阴性受试者和匹配的健康对照进行比较。 基因阳性组中脑结构和/或功能的变化将为这种疾病具有重要发育成分的观点提供重要支持。