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. 2016 Jan 30:235:200-2.
doi: 10.1016/j.psychres.2015.12.007. Epub 2015 Dec 8.

C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis

Annie Watson  1 , Mochtar Pribadi  2 , Kodavali Chowdari  1 , Sue Clifton  1 , Joel Wood  1 , Bruce L Miller  3 , Giovanni Coppola  4 , Vishwajit Nimgaonkar  5
Affiliations

C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis

Annie Watson et al. Psychiatry Res. .

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.

Keywords: Dementia; Schizoaffective disorder; Schizophrenia.

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Conflict of interest statement

Conflicts of Interest

Dr. Miller receives grant support from the NIH/NIA and the Centers for Medicare & Medicaid Services as grants for the Memory and Aging Center. He also serves as Medical Director for the John Douglas French Foundation, Scientific Director for the Tau Consortium, Director/Medical Advisory Board of the Larry L. Hillblom Foundation and Scientific Advisory Board Member for the NIH Research Cambridge Biomedical Research Centre and its subunit, the Biomedical Research Unit in Dementia (UK). The other authors do not disclose any conflicts of interest.

Figures

Figure 1
Figure 1. Pedigree structures
The individuals described in this manuscript are shown along with their relatives. Genders of some individuals have been altered to preserve confidentiality. Individuals with schizophrenia or schizoaffective disorder are indicated by darkened circles or squares. Other diagnoses are based on family history information from the probands’ parents. Genomic DNA from the individuals with schizophrenia or schizoaffective disorder in both pedigrees and the mother of the proband in Family 2 were assayed for the C9orf72 expansion.
See this image and copyright information in PMC

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