Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 155A, Issue 4, Pages 805-810Publisher
WILEY
DOI: 10.1002/ajmg.a.33917
Keywords
chromosome disorders; schizophrenia; autism; epilepsy; mental retardation; acetylcholine; alpha 7 nicotinic acetylcholine receptor; aggression
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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 alpha 7 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 alpha 7 NChR function can ameliorate 15q13.3DS-associated rage outbursts. (C) 2011 Wiley-Liss, Inc.
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