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.
Blom
Elin S
ES
Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden. elin.blom@pubcare.uu.se
Viswanathan
Jayashree
J
Kilander
Lena
L
Helisalmi
Seppo
S
Soininen
Hilkka
H
Lannfelt
Lars
L
Ingelsson
Martin
M
Glaser
Anna
A
Hiltunen
Mikko
M
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