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

Joseph F. Cubells, Elizabeth H. Deoreo, Philip D. Harvey, Steven J. Garlow, Kathryn Garber, Margaret P. Adam, Christa Lese Martin

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)805-810
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number4
DOIs
StatePublished - Apr 1 2011
Externally publishedYes

Keywords

  • α7 nicotinic acetylcholine receptor
  • Acetylcholine
  • Aggression
  • Autism
  • Chromosome disorders
  • Epilepsy
  • Mental retardation
  • Schizophrenia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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