小柯机器人

美国圣路易斯华盛顿大学Tammie L. S. Benzinger研究组取得一项新进展，他们建立了与显性遗传性阿尔茨海默病网络(DIAN)相关的正电子发射断层扫描和磁共振成像方法和数据集。2023年7月10日，国际知名学术期刊《自然—神经科学》发表了这一成果。

DIAN是一个研究常染色体显性阿尔茨海默病(ADAD)的国际合作组织。ADAD是由三个基因突变引起的。来自ADAD家族的后代有50%的机会遗传他们的家族突变，所以在病例对照研究中可以招募没有携带ADAD的兄弟姐妹进行比较。ADAD的发病年龄在家庭中是高度可预测的，这使得研究人员能够估计个体在疾病轨迹中的位置。这些特征使得候选AD生物标志物测量能够在临床前阶段可靠地绘制。

虽然ADAD只占AD病例的一小部分，但了解临床前阶段发生的基于神经影像学的变化也可能为“散发性”AD的早期疾病阶段提供见解。此外，本研究通过纳入非携带者对照，为健康老龄化研究提供了丰富的数据。

附：英文原文

Title: Positron emission tomography and magnetic resonance imaging methods and datasets within the Dominantly Inherited Alzheimer Network (DIAN)

Author: McKay, Nicole S., Gordon, Brian A., Hornbeck, Russ C., Dincer, Aylin, Flores, Shaney, Keefe, Sarah J., Joseph-Mathurin, Nelly, Jack, Clifford R., Koeppe, Robert, Millar, Peter R., Ances, Beau M., Chen, Charles D., Daniels, Alisha, Hobbs, Diana A., Jackson, Kelley, Koudelis, Deborah, Massoumzadeh, Parinaz, McCullough, Austin, Nickels, Michael L., Rahmani, Farzaneh, Swisher, Laura, Wang, Qing, Allegri, Ricardo F., Berman, Sarah B., Brickman, Adam M., Brooks, William S., Cash, David M., Chhatwal, Jasmeer P., Day, Gregory S., Farlow, Martin R., la Fougre, Christian, Fox, Nick C., Fulham, Michael, Ghetti, Bernardino, Graff-Radford, Neill, Ikeuchi, Takeshi, Klunk, William, Lee, Jae-Hong, Levin, Johannes, Martins, Ralph, Masters, Colin L., McConathy, Jonathan, Mori, Hiroshi, Noble, James M., Reischl, Gerald, Rowe, Christopher, Salloway, Stephen, Sanchez-Valle, Raquel, Schofield, Peter R., Shimada, Hiroyuki, Shoji, Mikio, Su, Yi, Suzuki, Kazushi, Vglein, Jonathan, Yakushev, Igor, Cruchaga, Carlos, Hassenstab, Jason, Karch, Celeste, McDade, Eric, Perrin, Richard J., Xiong, Chengjie, Morris, John C., Bateman, Randall J., Benzinger, Tammie L. S.

Issue&Volume: 2023-07-10

Abstract: The Dominantly Inherited Alzheimer Network (DIAN) is an international collaboration studying autosomal dominant Alzheimer disease (ADAD). ADAD arises from mutations occurring in three genes. Offspring from ADAD families have a 50% chance of inheriting their familial mutation, so non-carrier siblings can be recruited for comparisons in case–control studies. The age of onset in ADAD is highly predictable within families, allowing researchers to estimate an individual’s point in the disease trajectory. These characteristics allow candidate AD biomarker measurements to be reliably mapped during the preclinical phase. Although ADAD represents a small proportion of AD cases, understanding neuroimaging-based changes that occur during the preclinical period may provide insight into early disease stages of ‘sporadic’ AD also. Additionally, this study provides rich data for research in healthy aging through inclusion of the non-carrier controls. Here we introduce the neuroimaging dataset collected and describe how this resource can be used by a range of researchers.

DOI: 10.1038/s41593-023-01359-8

Source: https://www.nature.com/articles/s41593-023-01359-8

Nature Neuroscience：《自然—神经科学》，创刊于1998年。隶属于施普林格·自然出版集团，最新IF：28.771
官方网址：https://www.nature.com/neuro/
投稿链接：https://mts-nn.nature.com/cgi-bin/main.plex