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Clinical and neurop...
Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease
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- Basun, Hans (author)
- Uppsala universitet,Institutionen för folkhälso- och vårdvetenskap,Geriatrics
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- Bogdanovic, N. (author)
- Karolinska Institutet
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- Ingelsson, Martin (author)
- Uppsala universitet,Institutionen för folkhälso- och vårdvetenskap,Geriatrics
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- Almkvist, Ove (author)
- Karolinska Institutet,Stockholms universitet,Psykologiska institutionen
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Näslund, J. (author)
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Axelman, K. (author)
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Bird, T.D. (author)
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Nochlin, D. (author)
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Schellenberg, G.D. (author)
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- Wahlund, Lars-Olof (author)
- Karolinska Institutet
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- Lannfelt, Lars (author)
- Uppsala universitet,Institutionen för folkhälso- och vårdvetenskap,Geriatrics
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(creator_code:org_t)
- American Medical Association (AMA), 2008
- 2008
- English.
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In: Archives of neurology. - : American Medical Association (AMA). - 0003-9942 .- 1538-3687. ; 65:4, s. 499-505
- Related links:
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https://jamanetwork....
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- SAMHÄLLSVETENSKAP -- Psykologi (hsv//swe)
- SOCIAL SCIENCES -- Psychology (hsv//eng)
Keyword
- Alzheimer disease
- arctic APP gene mutation
- Psychology
- Psykologi
- MEDICINE
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Basun, Hans
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Bogdanovic, N.
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Ingelsson, Marti ...
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Almkvist, Ove
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Näslund, J.
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Axelman, K.
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show more...
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Bird, T.D.
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Nochlin, D.
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Schellenberg, G. ...
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Wahlund, Lars-Ol ...
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Lannfelt, Lars
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show less...
- About the subject
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- SOCIAL SCIENCES
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SOCIAL SCIENCES
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and Psychology
- Articles in the publication
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Archives of neur ...
- By the university
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Stockholm University
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Uppsala University
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Karolinska Institutet