title: C9ORF72 repeat expansions not detected in a group of patients with schizophrenia.
abstract: A hexanucleotide repeat expansion in C9ORF72 was recently found to cause some cases of frontotemporal lobar degeneration, frontotemporal dementia (FTD)-amyotrophic lateral sclerosis, and amyotrophic lateral sclerosis. Patients with frontotemporal lobar degeneration with the C9ORF72 repeat expansion are more likely than those without to present with psychosis. In this study, we screened DNA samples from 192 unrelated subjects with schizophrenia for the C9ORF72 repeat expansion. None of the subjects with schizophrenia had the pathogenic expansion. C9ORF72 repeat expansions either do not cause schizophrenia, or do so rarely (less than 1% of cases).
authors.affiliation: Taub Institute for Research on Alzheimer's Disease and the Aging Brain, The Gertrude H. Sergievsky Center, Columbia University, New York, NY 10032, USA. edh2126@columbia.edu
authors.forename: Edward D
authors.initials: ED
authors.lastname: Huey
authors.forename: Peter L
authors.initials: PL
authors.lastname: Nagy
authors.forename: Laura
authors.initials: L
authors.lastname: Rodriguez-Murillo
authors.forename: Masood
authors.initials: M
authors.lastname: Manoochehri
authors.forename: Jill
authors.initials: J
authors.lastname: Goldman
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Lieberman
authors.forename: Maria
authors.initials: M
authors.lastname: Karayiorgou
authors.forename: Richard
authors.initials: R
authors.lastname: Mayeux
mesh_terms: D000073885:C9orf72 Protein; D015984:Causality; D042622:DNA Repeat Expansion / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D015994:Incidence; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012307:Risk Factors; D012559:Schizophrenia / Q000453:epidemiology* / Q000235:genetics*; D014481:United States / Q000453:epidemiology
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D005819:Genetic Markers; D011506:Proteins