Low prevalence of APP duplications in Swedish and Finnish patients with early onset Alzheimer's disease
2008 (English)In: European Journal of Human Genetics, ISSN 1018-4813, Vol. 16, no 2, 171-5 p.Article in journal (Refereed) Published
Familial early-onset Alzheimer's disease with cerebral amyloid angiopathy (EOAD/CAA) was recently associated with duplications of the gene for the amyloid-beta precursor protein (APP). In this study, we have screened for duplications of APP in patients with EOAD from Sweden and Finland. Seventy-five individuals from families with EOAD and 66 individuals with EOAD without known familial inheritance were screened by quantitative PCR. On the basis of the initial results, a portion of the samples was also investigated with quantitative multiplex PCR. No duplications of APP were identified, whereby we conclude that this is not a common cause of EOAD in the Swedish and Finnish populations, at least not in our collection of families and cases.
Place, publisher, year, edition, pages
2008. Vol. 16, no 2, 171-5 p.
early-onset Alzheimer's disease, amyloid beta precursor protein, gene dose, APP, duplication
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-97805DOI: 10.1038/sj.ejhg.5201966ISI: 000252426500007PubMedID: 18043715OAI: oai:DiVA.org:uu-97805DiVA: diva2:172882