Screening for C9orf72 Expansion Mutation in Serbian Patients with Early-Onset Dementia

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 b...

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Published in:Dementia and geriatric cognitive disorders 2015-01, Vol.40 (5-6), p.358-365
Main Authors: Mandic-Stojmenovic, Gorana, Stefanova, Elka, Dobricic, Valerija, Novakovic, Ivana, Stojkovic, Tanja, Jesic, Aleksandar, Kostic, Vladimir
Format: Article
Language:English
Subjects:
Aged
Alzheimer Disease - genetics
C9orf72 Protein
Chromosomes
Dementia
Dementia - genetics
Diagnosis
Female
Frontotemporal Dementia - genetics
Gene mutation
Genetic aspects
Health aspects
Heterozygote
Humans
Male
Middle Aged
Mutation
Neurological research
Original Research Article
Phenotype
Proteins - genetics
Serbia
Structure
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Summary: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.
ISSN:1420-8008
1421-9824
DOI:10.1159/000438748