Department of NVS, Division for Neurogeriatrics, Karolinska Institutet, Center for Alzheimer Research, Huddinge, Sweden.
Theme Aging, Genetics Unit, Karolinska University Hospital, Stockholm, Sweden.
J Alzheimers Dis. 2018;64(s1):S491-S496. doi: 10.3233/JAD-179922.
This is a brief summary of the findings from the Swedish study on familial Alzheimer's disease (FAD). Similar to other FAD studies, it includes prospective assessments of cognitive function, tissue sampling, and technical analyses such as MRI and PET. This 24-year-old study involves 69 individuals with a 50% risk of inheriting a disease-causing mutation in presenilin 1 (PSEN1 H163Y or I143T), or amyloid precursor protein (the Swedish APP or the arctic APP mutation) who have made a total of 169 visits. Our results show the extraordinary power in this study design to unravel the earliest changes in preclinical AD. The Swedish FAD study will continue and future research will focus on disentangling the order of pathological change using longitudinal data as well as modeling the changes in patient derived cell systems.
这是对瑞典家族性阿尔茨海默病（FAD）研究结果的简要总结。与其他 FAD 研究一样，该研究包括对认知功能、组织取样以及 MRI 和 PET 等技术分析的前瞻性评估。这项长达 24 年的研究涉及 69 名个体，他们有 50%的风险遗传到早老素 1（PSEN1 H163Y 或 I143T）或淀粉样前体蛋白（瑞典 APP 或北极 APP 突变）中的致病突变，总共进行了 169 次就诊。我们的结果表明，该研究设计具有非凡的力量，可以揭示临床前 AD 的最早变化。瑞典 FAD 研究将继续进行，未来的研究将集中于使用纵向数据阐明病理变化的顺序，以及对患者来源细胞系统变化进行建模。
