Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome

Authors

  • Joseph F. Cubells,

    Corresponding author
    1. Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia
    2. Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, Georgia
    3. Emory Autism Center, Atlanta, Georgia
    • Department of Human Genetics, 615 Michael St., Suite 301, Atlanta, GA 30322.
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  • Elizabeth H. DeOreo,

    1. Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, Georgia
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  • Philip D. Harvey,

    1. Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, Georgia
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  • Steven J. Garlow,

    1. Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, Georgia
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  • Kathryn Garber,

    1. Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia
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  • Margaret P. Adam,

    1. Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia
    2. Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington
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  • Christa Lese Martin

    1. Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia
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  • How to Cite this Article: Cubells JF, DeOreo EH, Harvey PD, Garlow SJ, Garber K, Adam MP, Martin CL. 2011. Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome. Am J Med Genet Part A 155:805–810.

  • Joseph F. Cubells, Elizabeth H. DeOreo contributed equally to this work.

Abstract

15q13.3 deletion syndrome (15q13.3DS) is a common recurrent genomic disorder associated with epilepsy, intellectual impairment, aggressive behavior, schizophrenia, and autism. A 39-year-old male presented with 15q13.3DS, epilepsy, intellectual impairment, psychosis, and recurrent episodes of aggressive rage. We hypothesized that the patient's aggressive behavior reflected deficits in α7 nicotinic cholinergic receptor (NChR)-mediated neurotransmission, arising from haploinsufficiency of the structural gene CHRNA7 due to the deletion. Treatment with the NChR allosteric modulator and acetylcholinesterase (AChE) inhibitor, galantamine, led to a dramatic decline in the frequency and intensity of rage outbursts, suggesting that enhancement of α7 NChR function can ameliorate 15q13.3DS-associated rage outbursts. © 2011 Wiley-Liss, Inc.

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