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

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

Author information

1
Neurovascular Research Laboratory and Neurovascular Unit, Neurology Department, Hospital Universitari Vall d'Hebron, Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain.

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.

[Indexed for MEDLINE]

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