C9ORF72 repeat expansions not detected in a group of patients with schizophrenia |
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| Authors: | Edward D. Huey Peter L. Nagy Laura Rodriguez-Murillo Masood Manoochehri Jill Goldman Jeffrey Lieberman Maria Karayiorgou Richard Mayeux |
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| Affiliation: | 1. Taub Institute for Research on Alzheimer''s Disease and the Aging Brain, The Gertrude H. Sergievsky Center, Columbia University, New York, NY, USA;2. Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, NY, USA;3. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA;4. Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA |
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| 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). |
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| Keywords: | FTLD Schizophrenia C9ORF72 repeat expansion Psychosis |
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