{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T07:58:13Z","timestamp":1722931093547},"reference-count":8,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,4,4]],"date-time":"2011-04-04T00:00:00Z","timestamp":1301875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:p><jats:bold>Background:\u2002<\/jats:bold> Cerebral amyloid angiopathy (CAA) is a well\u2010established cause of lobar intracerebral hemorrhage (ICH). Familial forms of CAA are because of mutations in the gene encoding the beta\u2010amyloid precursor protein (<jats:italic>APP<\/jats:italic>) and duplications of this gene can cause early\u2010onset Alzheimer\u2019s disease associated with CAA. However, the contribution of <jats:italic>APP<\/jats:italic> genetic variants in the development of sporadic CAA remains unknown.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> The presence of genetic variants in the <jats:italic>APP<\/jats:italic> was examined in 78 patients with CAA\u2010related ICH by sequencing exons 16 and 17 coding the \u03b2\u2010amyloid protein and analyzing the presence of possible duplications of <jats:italic>APP<\/jats:italic> by microsatellite analysis and quantitative PCR.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> We did not identify any pathogenic mutation or chromosomal duplication of <jats:italic>APP<\/jats:italic>.<\/jats:p><jats:p><jats:bold>Conclusions:\u2002<\/jats:bold> Our results suggest that <jats:italic>APP<\/jats:italic> genetic variants, point mutations and locus duplication, are not a common cause of CAA\u2010related ICH in the Spanish population.<\/jats:p>","DOI":"10.1111\/j.1468-1331.2011.03401.x","type":"journal-article","created":{"date-parts":[[2011,4,5]],"date-time":"2011-04-05T04:07:53Z","timestamp":1301976473000},"page":"1279-1281","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["No evidence of <i>APP<\/i> point mutation and locus duplication in individuals with cerebral amyloid 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