Brain Connectivity Signatures of Behavior and Cognition in Duchenne Muscular Dystrophy

项目摘要 杜氏肌营养不良症（DMD）的治疗（基于药物和遗传学）旨在改善 肌肉功能和阻止疾病的发展。结果，骨骼甚至心脏 对肌肉组织进行了充分的研究。然而，关注大脑结构的研究很少， 在整个范围内报告了不同的认知缺陷。随着先进的治疗，如外显子 跳过，以及类固醇替代品，如VBP 15进入人体试验，有新的乐观， 提高DMD患者的预期寿命和生活质量。因此，更好地了解 大脑结构及其与认知功能的假定联系变得重要。我们的计划是收集飞行员的大脑 36例儿童（24例DMD儿童和12例健康对照，均为8~21岁）的影像学资料，使用最先进的 人类连接组计划的成像协议我们的首要目标是确定一个大脑连接 通过研究结构神经成像特征和功能的潜力， connectomic基序，并将它们与大脑中的基因表达谱相关联。

PROJECT SUMMARY Therapies (drugs and genetics-based) in Duchenne Muscular Dystrophy (DMD) are targeted towards improving muscle function and arresting the progression of disease. As a result, the skeletal and even the cardiac musculature are well researched. However, studies focusing on brain structure have been sparse even though varying cognitive deficits have been reported across the spectrum. With advancing treatments, such as exon skipping, as well as steroid alternatives such as VBP15 moving to human trials, there is renewed optimism about improving the life expectancy and quality of patients with DMD. Consequently, a better understanding of the brain structure and its putative link with cognitive function becomes important. Our plan is to collect pilot brain imaging data in 36 children (24 children with DMD and 12 healthy controls, both 8~21 years) using cutting-edge imaging protocols from the Human Connectome Project. Our overarching goal is to identify a brain connectivity biomarker of cognition in DMD by investigating the potential of structural neuroimaging signatures and functional connectomic motifs and relating them to gene expression profiles in the brain.