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• W2168331329 abstract "Background: 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." @default.
• W2168331329 created "2016-06-24" @default.
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• W2168331329 date "2015-01-01" @default.
• W2168331329 modified "2023-09-29" @default.
• W2168331329 title "Screening for C9orf72 Expansion Mutation in Serbian Patients with Early-Onset Dementia" @default.
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• W2168331329 doi "https://doi.org/10.1159/000438748" @default.
• W2168331329 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26401819" @default.
• W2168331329 hasPublicationYear "2015" @default.
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