title: The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD.
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.
authors.affiliation: Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland.
authors.forename: Eino
authors.initials: E
authors.lastname: Solje
authors.affiliation: Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland.
authors.forename: Heidi
authors.initials: H
authors.lastname: Aaltokallio
authors.affiliation: 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.
authors.forename: Heli
authors.initials: H
authors.lastname: Koivumaa-Honkanen
authors.affiliation: Department of Neurology, Oulu University Hospital, Oulu, Finland.
authors.forename: Noora M
authors.initials: NM
authors.lastname: Suhonen
authors.affiliation: Department of Neurology, Oulu University Hospital, Oulu, Finland.
authors.forename: Virpi
authors.initials: V
authors.lastname: Moilanen
authors.affiliation: Molecular Neurology, Research Programs Unit, University of Helsinki, Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Anna
authors.initials: A
authors.lastname: Kiviharju
authors.affiliation: 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.
authors.forename: Bryan
authors.initials: B
authors.lastname: Traynor
authors.affiliation: Molecular Neurology, Research Programs Unit, University of Helsinki, Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Pentti J
authors.initials: PJ
authors.lastname: Tienari
authors.affiliation: Department of Neurology, Kuopio University Hospital, Kuopio, Finland.
authors.forename: Päivi
authors.initials: P
authors.lastname: Hartikainen
authors.affiliation: Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland; Department of Neurology, Kuopio University Hospital, Kuopio, Finland.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Remes
mesh_terms: D000368:Aged; D000073885:C9orf72 Protein; D015331:Cohort Studies; D057180:Frontotemporal Dementia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000523:psychology; D006580:Genetic Carrier Screening; D006801:Humans; D008279:Magnetic Resonance Imaging; D001523:Mental Disorders / Q000235:genetics; D008875:Middle Aged; D010641:Phenotype; D049268:Positron-Emission Tomography; D011506:Proteins / Q000235:genetics*; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins