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  • Basun, HansUppsala universitet,Institutionen för folkhälso- och vårdvetenskap,Geriatrics (author)

Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease

  • Article/chapterEnglish2008

Publisher, publication year, extent ...

  • American Medical Association (AMA),2008
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:su-17370
  • https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-17370URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-16098URI
  • https://doi.org/10.1001/archneur.65.4.499DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:116841272URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Bogdanovic, N.Karolinska Institutet (author)
  • Ingelsson, MartinUppsala universitet,Institutionen för folkhälso- och vårdvetenskap,Geriatrics(Swepub:uu)maing121 (author)
  • Almkvist, OveKarolinska Institutet,Stockholms universitet,Psykologiska institutionen(Swepub:su)almkv (author)
  • Näslund, J. (author)
  • Axelman, K. (author)
  • Bird, T.D. (author)
  • Nochlin, D. (author)
  • Schellenberg, G.D. (author)
  • Wahlund, Lars-OlofKarolinska Institutet (author)
  • Lannfelt, LarsUppsala universitet,Institutionen för folkhälso- och vårdvetenskap,Geriatrics(Swepub:uu)lalan021 (author)
  • Uppsala universitetInstitutionen för folkhälso- och vårdvetenskap (creator_code:org_t)

Related titles

  • In:Archives of neurology: American Medical Association (AMA)65:4, s. 499-5050003-99421538-3687

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