title: The C9ORF72 expansion sizes in patients with psychosis: a population-based study on the Northern Finland Birth Cohort 1966.
abstract: Patients with behavioral variant frontotemporal dementia (bvFTD) have many psychotic symptoms, especially at the onset of the disease. The C9ORF72 expansion is the most common genetic etiology observed with bvFTD and the prevalence of the expansion is notably high among Finnish bvFTD patients. The aim of this study was to evaluate the prevalence of the C9ORF72 expansion among the clearly characterized patients with psychosis, mainly schizophrenia, in early midlife. The C9ORF72 repeat sizes were analyzed in 130 (48% women) patients with psychosis from the Northern Finland Birth Cohort 1966 (N=11,017), the mean onset age being 27.9 (SD 7.0) years. Despite the high frequency of psychiatric symptoms in bvFTD patients and the extremely high prevalence of the C9ORF72 expansion in Finland, pathogenic expansion (>40 repeats) was not detected among the Northern Finland Birth Cohort 1966 individuals with psychosis, indicating that these disorders, especially schizophrenia before the age of 43 years, may not be associated with the C9ORF72 expansion. However, we identified four cases with intermediate size repeats (17-26), but the role of the intermediate repeats in the etiology of psychosis is unknown.
authors: aInstitute of Clinical Medicine-Neurology bInstitute of Clinical Medicine-Psychiatry, Department of Medicine, University of Eastern Finland cDepartment of Psychiatry dDepartment of Neurology, Kuopio University Hospital, Kuopio eResearch Unit of Clinical Neuroscience, Department of Psychiatry fCenter for Life Course Health Research, University of Oulu gMedical Research Center Oulu, Oulu University Hospital, University of Oulu hDepartment of Psychiatry, Oulu University Hospital iDepartment of Psychiatry, South-Savonia Hospital District, Mikkeli jDepartment of Psychiatry, North Karelia Central Hospital, Joensuu kDepartment of Psychiatry, SOSTERI, Savonlinna lDepartment of Psychiatry, SOTE, Iisalmi mDepartment of Psychiatry, Lapland Hospital District, Rovaniemi, Finland.
authors: Eino
authors: E
authors: Solje
authors: Jouko
authors: J
authors: Miettunen
authors: Riikka
authors: R
authors: Marttila
authors: Seppo
authors: S
authors: Helisalmi
authors: Marjo
authors: M
authors: Laitinen
authors: Heli
authors: H
authors: Koivumaa-Honkanen
authors: Matti
authors: M
authors: Isohanni
authors: Mikko
authors: M
authors: Hiltunen
authors: Erika
authors: E
authors: Jääskeläinen
authors: Anne M
authors: AM
authors: Remes
mesh_terms: D000328:Adult; D000073885:C9orf72 Protein; D015331:Cohort Studies; D005260:Female; D005387:Finland; D006801:Humans; D008297:Male; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D055815:Young Adult
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins