阿尔茨海默病静息态功能神经影像遗传学的变革
Revolution of Resting-State Functional Neuroimaging Genetics in Alzheimer's Disease.
作者信息
Chiesa Patrizia A, Cavedo Enrica, Lista Simone, Thompson Paul M, Hampel Harald
机构信息
AXA Research Fund & UPMC Chair, Paris, France; Sorbonne Universities, Pierre and Marie Curie University, Paris 06, Institute of Memory and Alzheimer's Disease (IM2A) & Brain and Spine Institute (ICM) UMR S 1127, Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France.
AXA Research Fund & UPMC Chair, Paris, France; Sorbonne Universities, Pierre and Marie Curie University, Paris 06, Institute of Memory and Alzheimer's Disease (IM2A) & Brain and Spine Institute (ICM) UMR S 1127, Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France; Laboratory of Alzheimer's Neuroimaging and Epidemiology, IRCCS Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
出版信息
Trends Neurosci. 2017 Aug;40(8):469-480. doi: 10.1016/j.tins.2017.06.002. Epub 2017 Jul 3.
The quest to comprehend genetic, biological, and symptomatic heterogeneity underlying Alzheimer's disease (AD) requires a deep understanding of mechanisms affecting complex brain systems. Neuroimaging genetics is an emerging field that provides a powerful way to analyze and characterize intermediate biological phenotypes of AD. Here, we describe recent studies showing the differential effect of genetic risk factors for AD on brain functional connectivity in cognitively normal, preclinical, prodromal, and AD dementia individuals. Functional neuroimaging genetics holds particular promise for the characterization of preclinical populations; target populations for disease prevention and modification trials. To this end, we emphasize the need for a paradigm shift towards integrative disease modeling and neuroimaging biomarker-guided precision medicine for AD and other neurodegenerative diseases.
要理解阿尔茨海默病（AD）潜在的遗传、生物学和症状异质性，需要深入了解影响复杂脑系统的机制。神经影像遗传学是一个新兴领域，它为分析和表征AD的中间生物学表型提供了一种有力方法。在此，我们描述了近期的研究，这些研究显示了AD遗传风险因素对认知正常、临床前期、前驱期和AD痴呆个体脑功能连接的不同影响。功能神经影像遗传学在表征临床前期人群方面具有特殊前景；临床前期人群是疾病预防和干预试验的目标人群。为此，我们强调需要进行范式转变，转向针对AD和其他神经退行性疾病的综合疾病建模以及神经影像生物标志物引导的精准医学。
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