期刊
NATURE MEDICINE
卷 25, 期 11, 页码 1680-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41591-019-0611-3
关键词
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资金
- US National Institutes of Health (NIH) Office of the Director [DP5 OD019833]
- US National Institute on Aging [R01 AG054671, R01 AG031581, P30 AG19610, RF01 AG057519]
- Massachusetts General Hospital Executive Committee on Research
- Massachusetts General Hospital
- Alzheimer's Association
- US National Institute of Neurological Disorders and Stroke [UH3 NS100121, RF1 NS110048]
- National Institute on Aging [UH3 NS100121, RF1 NS110048]
- Grimshaw-Gudewicz Charitable Foundation
- Banner Alzheimer's Foundation
- Nomis Foundation
- Anonymous Foundation
- State of Arizona
- MRC [UKDRI-1003] Funding Source: UKRI
We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer's disease.
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