| 1. |
- Basun, Hans, et al.
(författare)
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Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease
- 2008
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Ingår i: Archives of neurology. - : American Medical Association (AMA). - 0003-9942 .- 1538-3687. ; 65:4, s. 499-505
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: A majority of mutations within the beta-amyloid region of the amyloid precursor protein (APP) gene cause inherited forms of intracerebral hemorrhage. Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra-beta-amyloid mutation to date causing the more typical clinical picture of Alzheimer disease. OBJECTIVE: To describe features of 1 Swedish and 1 American family with the previously reported Arctic APP mutation. DESIGN, SETTING, AND PARTICIPANTS: Affected and nonaffected carriers of the Arctic APP mutation from the Swedish and American families were investigated clinically. In addition, 1 brain from each family was investigated neuropathologically. RESULTS: The clinical picture, with age at disease onset in the sixth to seventh decade of life and dysfunction in multiple cognitive areas, is indicative of Alzheimer disease and similar to the phenotype for other Alzheimer disease APP mutations. Several affected mutation carriers displayed general brain atrophy and reduced blood flow of the parietal lobe as demonstrated by magnetic resonance imaging and single-photon emission computed tomography. One Swedish case and 1 American case with the Arctic APP mutation came to autopsy, and both showed no signs of hemorrhage but revealed severe congophilic angiopathy, region-specific neurofibrillary tangle pathological findings, and abundant amyloid plaques. Intriguingly, most plaques from both of these cases had a characteristic ringlike character. CONCLUSIONS: Overall, our findings corroborate that the Arctic APP mutation causes a clinical and neuropathological picture compatible with Alzheimer disease.
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| 2. |
- Wahlin, Åke, et al.
(författare)
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The International Network on Public Health and Aging (INOPA) : Introducing a Life Course Perspective to the Public Health Agenda
- 2008
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Ingår i: Journal of Cross-Cultural Gerontology. - : Springer Science and Business Media LLC. - 0169-3816 .- 1573-0719. ; 23:1, s. 97-105
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Tidskriftsartikel (refereegranskat)abstract
- In this paper, we present an international network of researchers from projects examining the human aging process and its consequences. It is both vital and urgent to include aging and a life course perspective on the public health agenda, particularly in low-income countries. By announcing the network in a publication, we wish not just to position the network but, more importantly, to attract the attention of other potential collaborators either at the project, institutional, decision making, or applied level.
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