No evidence of APP point mutation and locus duplication in individuals with cerebral amyloid angiopathy

S. Domingues-Montanari, M. Parés, M. Hernández-Guillamon, I. Fernández-Cadenas, M. Mendioroz, G. Ortega, M. Boada, J. Masjuan, N. Huertas, J. Álvarez-Sabín, P. Delgado, J. Montaner

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Abstract

Background: Cerebral amyloid angiopathy (CAA) is a well-established cause of lobar intracerebral hemorrhage (ICH). Familial forms of CAA are because of mutations in the gene encoding the beta-amyloid precursor protein (APP) and duplications of this gene can cause early-onset Alzheimer's disease associated with CAA. However, the contribution of APP genetic variants in the development of sporadic CAA remains unknown. Methods: The presence of genetic variants in the APP was examined in 78 patients with CAA-related ICH by sequencing exons 16 and 17 coding the β-amyloid protein and analyzing the presence of possible duplications of APP by microsatellite analysis and quantitative PCR. Results: We did not identify any pathogenic mutation or chromosomal duplication of APP. Conclusions: Our results suggest that APP genetic variants, point mutations and locus duplication, are not a common cause of CAA-related ICH in the Spanish population. © 2011 The Author(s). European Journal of Neurology © 2011 EFNS.
Original languageEnglish
Pages (from-to)1279-1281
JournalEuropean Journal of Neurology
Volume18
Issue number10
DOIs
Publication statusPublished - 1 Oct 2011

Keywords

  • β-amyloid
  • APP
  • Cerebral amyloid angiopathy
  • Duplication
  • Genetics
  • Intracerebral hemorrhage
  • Stroke

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    Domingues-Montanari, S., Parés, M., Hernández-Guillamon, M., Fernández-Cadenas, I., Mendioroz, M., Ortega, G., Boada, M., Masjuan, J., Huertas, N., Álvarez-Sabín, J., Delgado, P., & Montaner, J. (2011). No evidence of APP point mutation and locus duplication in individuals with cerebral amyloid angiopathy. European Journal of Neurology, 18(10), 1279-1281. https://doi.org/10.1111/j.1468-1331.2011.03401.x