C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis. (30th January 2016)

• Record Type: Journal Article
• Authors: Watson, Annie; Pribadi, Mochtar; Chowdari, Kodavali; Clifton, Sue; Joel Wood, ; Miller, Bruce L.; Coppola, Giovanni; Nimgaonkar, Vishwajit
• Is Part Of: Psychiatry research. Volume 235(2016)
• Page Start: 200
• Page End: 202
• Publication Date: 2016-01-30
• Subjects: Schizophrenia -- Schizoaffective disorder -- Dementia; Psychiatry -- Periodicals; Psychiatry -- periodicals; Psychiatrie -- Périodiques; 616.89
• DOI: 10.1016/j.psychres.2015.12.007
• Languages: English
• ISSNs: 0165-1781

Abstract

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. Highlights: Pathological hexanucleotide repeat expansions of C9orf72 cause FTD/ALS. We screened for C9orf72 repeat expansions among individuals with psychoses. We describe four individuals with C9orf72 repeat expansions. Three of the individuals were diagnosed with SZ and SZA. All the patients with SZ or SZA had florid psychotic features.