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.
Article first published online: 15 MAR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 4, pages 805–810, April 2011
How to Cite
Cubells, J. F., DeOreo, E. H., Harvey, P. D., Garlow, S. J., Garber, K., Adam, M. P. and Martin, C. L. (2011), Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome. Am. J. Med. Genet., 155: 805–810. doi: 10.1002/ajmg.a.33917
Joseph F. Cubells, Elizabeth H. DeOreo contributed equally to this work.
- Issue published online: 24 MAR 2011
- Article first published online: 15 MAR 2011
- Manuscript Accepted: 31 DEC 2010
- Manuscript Received: 12 JUL 2010
- chromosome disorders;
- mental retardation;
- α7 nicotinic acetylcholine receptor;
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.