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- Title
No evidence of APP point mutation and locus duplication in individuals with cerebral amyloid angiopathy.
- Authors
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.
- 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.
- Subjects
CEREBRAL amyloid angiopathy; INTRACEREBRAL hematoma; AMYLOID beta-protein precursor; ALZHEIMER'S disease; EXONS (Genetics); MICROSATELLITE repeats
- Publication
European Journal of Neurology, 2011, Vol 18, Issue 10, p1279
- ISSN
1351-5101
- Publication type
Article
- DOI
10.1111/j.1468-1331.2011.03401.x