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 . DOI: 10.1371/journal.pone.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.
Other contributor: University of Helsinki, Research Programme for Molecular Neurology
University of Helsinki, Research Programmes Unit




Date: 2015-07-06
Language: eng
Number of pages: 9
Belongs to series: PLoS One
ISSN: 1932-6203
DOI: https://doi.org/10.1371/journal.pone.0131817
URI: http://hdl.handle.net/10138/160389
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.
Subject: HEXANUCLEOTIDE REPEAT EXPANSION
FRONTOTEMPORAL DEMENTIA
DIAGNOSTIC-CRITERIA
BEHAVIORAL VARIANT
ALS
SENSITIVITY
MUTATIONS
FEATURES
FTD
3112 Neurosciences
3124 Neurology and psychiatry
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