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

Autor: Solje E; Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland., Aaltokallio H; Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland., Koivumaa-Honkanen H; Institute of Clinical Medicine-Psychiatry, University of Eastern Finland, Kuopio, Finland; Department of Psychiatry, Kuopio University Hospital, Kuopio, Finland; Department of Psychiatry, South-Savonia Hospital District, Mikkeli, Finland; Department of Psychiatry, North Karelia Central Hospital, Joensuu, Finland; Department of Psychiatry, SOSTERI, Savonlinna, Finland; Department of Psychiatry, SOTE, Iisalmi, Finland; Department of Psychiatry, Lapland Hospital District, Rovaniemi, Finland., Suhonen NM; Department of Neurology, Oulu University Hospital, Oulu, Finland., Moilanen V; Department of Neurology, Oulu University Hospital, Oulu, Finland., Kiviharju A; Molecular Neurology, Research Programs Unit, University of Helsinki, Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland., Traynor B; Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America; Brain Sciences Institute, Johns Hopkins University, Baltimore, Maryland, United States of America., Tienari PJ; Molecular Neurology, Research Programs Unit, University of Helsinki, Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland., Hartikainen P; Department of Neurology, Kuopio University Hospital, Kuopio, Finland., Remes AM; Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland; Department of Neurology, Kuopio University Hospital, Kuopio, Finland.
Jazyk: angličtina
Zdroj: PloS one [PLoS One] 2015 Jul 06; Vol. 10 (7), pp. e0131817. Date of Electronic Publication: 2015 Jul 06 (Print Publication: 2015).
DOI: 10.1371/journal.pone.0131817
Abstrakt: 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.
Databáze: MEDLINE
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