title: No evidence of APP point mutation and locus duplication in individuals with cerebral amyloid angiopathy.
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.
authors.affiliation: Neurovascular Research Laboratory and Neurovascular Unit, Neurology Department, Hospital Universitari Vall d'Hebron, Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Domingues-Montanari
authors.forename: M
authors.initials: M
authors.lastname: Parés
authors.forename: M
authors.initials: M
authors.lastname: Hernández-Guillamon
authors.forename: I
authors.initials: I
authors.lastname: Fernández-Cadenas
authors.forename: M
authors.initials: M
authors.lastname: Mendioroz
authors.forename: G
authors.initials: G
authors.lastname: Ortega
authors.forename: M
authors.initials: M
authors.lastname: Boada
authors.forename: J
authors.initials: J
authors.lastname: Masjuan
authors.forename: N
authors.initials: N
authors.lastname: Huertas
authors.forename: J
authors.initials: J
authors.lastname: Alvarez-Sabín
authors.forename: P
authors.initials: P
authors.lastname: Delgado
authors.forename: J
authors.initials: J
authors.lastname: Montaner
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D016657:Cerebral Amyloid Angiopathy / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D002543:Cerebral Hemorrhage / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020440:Gene Duplication / Q000235:genetics*; D056426:Genetic Loci / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D013030:Spain
chemical_list: D016564:Amyloid beta-Protein Precursor