Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease.
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.
Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden. elin.blom@pubcare.uu.se
Elin S
ES
Blom
Jayashree
J
Viswanathan
Lena
L
Kilander
Seppo
S
Helisalmi
Hilkka
H
Soininen
Lars
L
Lannfelt
Martin
M
Ingelsson
Anna
A
Glaser
Mikko
M
Hiltunen
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D016657:Cerebral Amyloid Angiopathy / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005387:Finland; D018628:Gene Dosage; D020440:Gene Duplication; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D013548:Sweden
D016564:Amyloid beta-Protein Precursor