The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD

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Solje , E , Aaltokallio , H , Koivumaa-Honkanen , H , Suhonen , N M , Moilanen , V , Kiviharju , A , Traynor , B , Tienari , P J , Hartikainen , P & Remes , A M 2015 , ' The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD ' , PLoS One , vol. 10 , no. 7 , 0131817 .

Title: The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD
Author: Solje, Eino; Aaltokallio, Heidi; Koivumaa-Honkanen, Heli; Suhonen, Noora M.; Moilanen, Virpi; Kiviharju, Anna; Traynor, Bryan; Tienari, Pentti J.; Hartikainen, Paivi; Remes, Anne M.
Contributor organization: Research Programs Unit
Research Programme for Molecular Neurology
Neurologian yksikkö
Pentti Tienari / Principal Investigator
Date: 2015-07-06
Language: eng
Number of pages: 9
Belongs to series: PLoS One
ISSN: 1932-6203
Abstract: Background The C9ORF72 expansion is one of the most common genetic etiologies observed with behavioural variant frontotemporal dementia (bvFTD). Revised diagnostic criteria for bvFTD (FTDC) were recently introduced but only a few studies have evaluated the accuracy of these criteria. Objective The objective of the study was to evaluate the applicability of the FTDC criteria and assess the psychiatric history of these patients. Methods The study examined 36 patients carrying the C9ORF72 expansion and suffering from bvFTD (N = 32) or from bvFTD with motor neuron disease (bvFTD-MND, N = 4). Neuropsychological, neuropsychiatric, structural brain imaging and PET/SPECT data were evaluated. Results We found 0.75 sensitivity (SD 0.44, 95% CI 0.57-0.87) for possible bvFTD and 0.64 (SD 0.44, 95% CI 0.57-0.87) for probable bvFTD. The sensitivity was even higher in bvFTD patients without MND, i.e., 0.81 for possible bvFTD and 0.69 for probable bvFTD. PET/SPECT was normal in 17.6% of scanned patients with bvFTD. A history of psychiatric symptoms (psychotic and/or mood symptoms) was detected in 61% of cases. Conclusions The FTDC possible and probable bvFTD criteria seem to identify the majority of the C9ORF72 expansion carriers with bvFTD, even though they exhibit only a limited number of behavioral criteria but a significant amount of psychiatric symptoms. The presence of a normal PET/SPECT does not exclude the possibility the C9ORF72 associated bvFTD.
3112 Neurosciences
3124 Neurology and psychiatry
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

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