Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome.
Am J Med Genet A
; 155A(4): 805-10, 2011 Apr.
Article
en En
| MEDLINE
| ID: mdl-21594999
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Furor
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Cromosomas Humanos Par 15
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Inhibidores de la Colinesterasa
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Deleción Cromosómica
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Galantamina
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Trastornos Mentales
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
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Female
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Humans
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Male
Idioma:
En
Año:
2011
Tipo del documento:
Article