期刊
BRAIN & DEVELOPMENT
卷 39, 期 5, 页码 439-443出版社
ELSEVIER
DOI: 10.1016/j.braindev.2016.11.009
关键词
Chorea; Pediatrics; GNAO1
资金
- Grants-in-Aid for Scientific Research [16H05357] Funding Source: KAKEN
We report the case of a 19-year-old female patient who had progressive chorea associated with a GNAO1 mutation. Chorea was refractory to multiple anticonvulsants, and the patient suffered from tiapride-induced neuroleptic malignant syndrome. After identification of a GNAO1 missense mutation at the age of 18 years, topiramate treatment was initiated and the frequency of chorea decreased dramatically. The efficacy of topiramate may have been related to the inhibitory modulation of voltage-activated Ca2+ channels. Given the side effects and complications associated with neuroleptics and deep brain stimulation, respectively, topiramate is recommended for the first-line management of severe chorea associated with a GNAO1 mutation. (C) 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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