European journal of neurology · 2011
No evidence of APP point mutation and locus duplication in individuals with cerebral amyloid angiopathy.
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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, Alvarez-Sabín J, Delgado P, Montaner J, Stroke Project of Cerebrovascular Diseases Study Group, Spanish Society of Neurology
Аннотация
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.
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.