title: C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis.
abstract: A pathologic hexanucleotide repeat expansion in C9orf72 causes frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). Behavioral abnormalities can also occur among mutation carriers with FTD, but it is uncertain whether such mutations occur among persons with psychoses per se. Among participants in a genetic study of psychoses (N=739), two pairs of related individuals had C9orf72 expansions, of whom three were diagnosed with schizophrenia (SZ) / schizoaffective disorder (SZA), but their clinical features did not suggest dementia or ALS. A few patients with SZ/SZA carry C9orf72 repeat expansions; such individuals are highly likely to develop FTD/ALS.
authors.affiliation: Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, PA, United States.
authors.forename: Annie
authors.initials: A
authors.lastname: Watson
authors.affiliation: Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, United States.
authors.forename: Mochtar
authors.initials: M
authors.lastname: Pribadi
authors.affiliation: Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, PA, United States.
authors.forename: Kodavali
authors.initials: K
authors.lastname: Chowdari
authors.affiliation: Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, PA, United States.
authors.forename: Sue
authors.initials: S
authors.lastname: Clifton
authors.affiliation: Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, PA, United States.
authors.lastname: Joel Wood
authors.affiliation: Memory and Aging Center/Sandler Neurosciences Center, University of California San Francisco, San Francisco, CA, United States.
authors.forename: Bruce L
authors.initials: BL
authors.lastname: Miller
authors.affiliation: Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, United States. Electronic address: gcoppola@ucla.edu.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Coppola
authors.affiliation: Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, PA, United States; Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, Pittsburgh, PA, United States. Electronic address: nimga@pitt.edu.
authors.forename: Vishwajit
authors.initials: V
authors.lastname: Nimgaonkar
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000523:psychology; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D011618:Psychotic Disorders / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D012565:Schizophrenic Psychology
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: Dementia; Schizoaffective disorder; Schizophrenia