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

Eur J Neurol. 2011 Oct;18(10):1279-81. doi: 10.1111/j.1468-1331.2011.03401.x. Epub 2011 Apr 4.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Amyloid beta-Protein Precursor / genetics*
  • Cerebral Amyloid Angiopathy / epidemiology
  • Cerebral Amyloid Angiopathy / genetics*
  • Cerebral Amyloid Angiopathy / metabolism
  • Cerebral Hemorrhage / epidemiology
  • Cerebral Hemorrhage / genetics*
  • Cerebral Hemorrhage / metabolism
  • Female
  • Gene Duplication / genetics*
  • Genetic Loci / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Point Mutation / genetics*
  • Spain


  • Amyloid beta-Protein Precursor