{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T20:14:20Z","timestamp":1791144860570,"version":"4.1.0"},"reference-count":20,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dement Geriatr Cogn Disord"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>&lt;i&gt;Background\/Aims: &lt;\/i&gt;Mutations in the amyloid precursor protein gene were the first to be recognized as a cause of Alzheimer\u2019s disease (AD). &lt;i&gt;Methods: &lt;\/i&gt;We describe 2 Italian families showing the missense mutation in exon 17 of the amyloid precursor protein gene on chromosome 21 (Val717Ile), known as London mutation. &lt;i&gt;Results:&lt;\/i&gt; In 1 family, this mutation was responsible for AD in 3 out of 7 siblings and it is also present in a fourth sibling who has only shown signs of executive dysfunction so far. Two subjects of the other family with AD diagnosis were carriers of the same mutation. &lt;i&gt;Conclusion:&lt;\/i&gt; All AD subjects showed a cognitive profile characterized by early impairment in long-term memory, shifting abilities and affective symptoms beginning in the fifth decade of life.<\/jats:p>","DOI":"10.1159\/000313541","type":"journal-article","created":{"date-parts":[[2010,6,3]],"date-time":"2010-06-03T09:12:07Z","timestamp":1275556327000},"page":"484-490","source":"Crossref","is-referenced-by-count":13,"title":["The London APP Mutation (Val717Ile) Associated with Early Shifting Abilities and Behavioral Changes in Two Italian Families with Early-Onset Alzheimer\u2019s 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