{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:32:29Z","timestamp":1759336349282,"version":"3.40.4"},"reference-count":34,"publisher":"S. Karger AG","issue":"5-6","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"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":[[2014]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Early-onset Alzheimer's disease (EOAD) represents less than 5% of all AD cases. Autosomal dominant EOAD has been defined as the occurrence of at least three cases in three generations. Mutations in the amyloid precursor protein (APP), presenilin-1 and presenilin-2 genes have been recognized to be the cause of EOAD. &lt;b&gt;&lt;i&gt;Objective:&lt;\/i&gt;&lt;\/b&gt; We investigated the genotype of EOAD in two generations of two families with EOAD living in an Iranian village. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; The polymerase chain reaction method was used to study the presenilin-1 and APP genes in 25 subjects of these generations. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; A guanine-to-adenine transition in exon 17 of the APP gene resulting in a valine-to-isoleucine substitution at codon 717 was detected in 14 subjects including 6 patients with EOAD. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; This mutation demonstrates the importance of &amp;#947;-secretase, the necessity of early detection of patients with memory decline in the susceptible population and raising public awareness of consanguinity marriages.<\/jats:p>","DOI":"10.1159\/000358232","type":"journal-article","created":{"date-parts":[[2014,8,14]],"date-time":"2014-08-14T06:52:01Z","timestamp":1407999121000},"page":"330-336","source":"Crossref","is-referenced-by-count":3,"title":["Early-Onset Alzheimer's Disease in Two Iranian Families: A Genetic 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