1例对托吡酯有反应的伴有GNAO1突变的严重运动障碍病例。
A case of severe movement disorder with GNAO1 mutation responsive to topiramate.
作者信息
Sakamoto Saori, Monden Yukifumi, Fukai Ryoko, Miyake Noriko, Saito Hiroshi, Miyauchi Akihiko, Matsumoto Ayumi, Nagashima Masako, Osaka Hitoshi, Matsumoto Naomichi, Yamagata Takanori
机构信息
Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Department of Pediatrics, Jichi Medical University, Tochigi, Japan; Department of Pediatrics, International University of Health and Welfare, 537-3 Iguchi, Shiobara, Tochigi 329-2763, Japan.
出版信息
Brain Dev. 2017 May;39(5):439-443. doi: 10.1016/j.braindev.2016.11.009. Epub 2017 Jan 6.
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 18years, 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 Ca 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.
我们报告了一例19岁女性患者，其患有与GNAO1突变相关的进行性舞蹈症。舞蹈症对多种抗惊厥药均无效，且该患者出现了硫必利诱发的神经精神恶性综合征。在18岁时发现GNAO1错义突变后，开始使用托吡酯治疗，舞蹈症的发作频率显著降低。托吡酯的疗效可能与电压激活钙通道的抑制性调节有关。鉴于抗精神病药物和深部脑刺激分别存在副作用和并发症，推荐托吡酯作为与GNAO1突变相关的严重舞蹈症的一线治疗药物。
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