Screening for C9orf72 expansion mutation in Serbian patients with early-onset dementia

Mandic-Stojmenovic, Gorana (55780903300)Gorana (55780903300)Mandic-StojmenovicStefanova, Elka (7004567022)Elka (7004567022)StefanovaDobricic, Valerija (22952783800)Valerija (22952783800)DobricicNovakovic, Ivana (6603235567)Ivana (6603235567)NovakovicStojkovic, Tanja (57211211787)Tanja (57211211787)StojkovicJesic, Aleksandar (35184959300)Aleksandar (35184959300)JesicKostic, Vladimir (57189017751)Vladimir (57189017751)Kostic2025-06-122025-06-122015https://doi.org/10.1159/000438748https://www.scopus.com/inward/record.uri?eid=2-s2.0-84942279763&doi=10.1159%2f000438748&partnerID=40&md5=cb9d271380568144736fc754711f2981https://remedy.med.bg.ac.rs/handle/123456789/8133Background: 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 (C9orf72) 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). Methods: The aim of this study was to assess the frequency of the C9orf72 hexanucleotide expansion in a cohort of 117 Serbian patients with EOD and to report phenotypic features of identified carriers. Results: We identified 4 of 117 (3.4%) patients with EOD to have C9orf72 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 C9orf72 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. Conclusion: In a cohort of consecutive patients with EOD, 3.4% had the C9orf72 hexanucleotide expansion with clinical phenotypes of bvFTD or an overlap of bvFTD and MND. © 2015 S. Karger AG, Basel.Behavioral variant frontotemporal dementiaChromosome 9 open reading frame 72Early-onset dementiaFrontotemporal dementiaFrontotemporal dementia-motor neuron diseaseScreening for C9orf72 expansion mutation in Serbian patients with early-onset dementia