{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:03:53Z","timestamp":1790712233023,"version":"4.1.0"},"reference-count":34,"publisher":"S. Karger AG","issue":"5-6","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"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":[[2015]]},"abstract":"<b><i>Background:<\/i><\/b> Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia (EOD), characterized by behavioral changes (behavioral variant; bvFTD) or language deficits. A hexanucleotide repeat expansion in a noncoding region of chromosome 9 open reading frame 72 <i>(C9orf72)<\/i> has been proved to be a major cause of both familial and sporadic amyotrophic lateral sclerosis or FTD, with or without concomitant motor neuron disease (MND). <b><i>Methods:<\/i><\/b> The aim of this study was to assess the frequency of the <i>C9orf72<\/i> hexanucleotide expansion in a cohort of 117 Serbian patients with EOD and to report phenotypic features of identified carriers. <b><i>Results:<\/i><\/b> We identified 4 of 117 (3.4%) patients with EOD to have <i>C9orf72<\/i> hexanucleotide expansions. All patients were classified in the FTD disease spectrum group (8.2%): 3 patients fulfilled the criteria for bvFTD, and 1 patient had FTD-MND. None of the patients with the <i>C9orf72<\/i> hexanucleotide expansion fulfilled the diagnostic criteria for language variants of FTD, FTD-progressive supranuclear palsy overlap syndrome, dementia with Lewy bodies or Alzheimer's dementia. <b><i>Conclusion:<\/i><\/b> In a cohort of consecutive patients with EOD, 3.4% had the <i>C9orf72<\/i> hexanucleotide expansion with clinical phenotypes of bvFTD or an overlap of bvFTD and MND.<\/jats:p>","DOI":"10.1159\/000438748","type":"journal-article","created":{"date-parts":[[2015,9,24]],"date-time":"2015-09-24T21:01:20Z","timestamp":1443128480000},"page":"358-365","source":"Crossref","is-referenced-by-count":4,"title":["Screening for <b><i>C9orf72<\/i><\/b> Expansion Mutation in Serbian Patients with Early-Onset Dementia"],"prefix":"10.1159","volume":"40","author":[{"given":"Gorana","family":"Mandic-Stojmenovic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elka","family":"Stefanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerija","family":"Dobricic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Novakovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Stojkovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandar","family":"Jesic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Kostic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2015,9,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.11.1615"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr179"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.7.1077"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr361"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-011-0907-y"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-011-0839-6"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000187068.92184.63"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.09.011"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.09.010"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70043-1"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.01.011"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2011.03.005"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70289-7"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31821103e6"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1080\/146608200300079536"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70042-0"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.2.250"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3956(75)90026-6"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7430-8"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102360"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70210-2"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70014-5"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr354"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr355"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1001\/2013.jamaneurol.181"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2013.09.037"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1186\/alzrt148"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182684634"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2013.01.031"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70233-9"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6640-1"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000061"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr366"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.3109\/21678421.2013.765485"}],"container-title":["Dementia 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