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简要报告:坎普拉西坦在脆性 X 综合征中的应用。

Brief report: acamprosate in fragile X syndrome.

机构信息

Department of Psychiatry, Indiana University School of Medicine, 702 Barnhill Drive, Room 4300, Indianapolis, IN 46202, USA,

出版信息

J Autism Dev Disord. 2010 Nov;40(11):1412-6. doi: 10.1007/s10803-010-0988-9.

DOI:10.1007/s10803-010-0988-9
PMID:20213249
Abstract

Glutamatergic dysfunction is implicated in the pathophysiology of fragile X syndrome (FXS). We report on the first trial of acamprosate, a drug with putative mGluR5 antagonism, in three adults with FXS and autism. Medical records describing open-label treatment with acamprosate in 3 patients with FXS and a comorbid diagnosis of autistic disorder were reviewed. In all three patients, acamprosate was associated with improved linguistic communication. Three patients received acamprosate over a mean 21.3 weeks of treatment. All patients showed global clinical benefit as rated with the Clinical Global Impressions-Improvement scale. Marked communication improvement was unexpected and has potential implications for the treatment of FXS, as well as idiopathic autism.

摘要

谷氨酸能功能障碍与脆性 X 综合征 (FXS) 的病理生理学有关。我们报告了第一个关于苯丁酸钠(一种具有潜在 mGluR5 拮抗作用的药物)在 3 名 FXS 合并自闭症成人中的试验。我们回顾了 3 名 FXS 合并自闭症障碍诊断的患者接受苯丁酸钠开放性治疗的病历。在所有 3 名患者中,苯丁酸钠均与语言交流能力的改善相关。3 名患者接受苯丁酸钠治疗的平均时间为 21.3 周。所有患者的临床总体印象-改善量表评分均显示出整体临床获益。沟通的显著改善出乎意料,这对 FXS 以及特发性自闭症的治疗具有潜在意义。

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本文引用的文献

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Open-label memantine in fragile X syndrome.脆性 X 综合征的开放性美金刚治疗。
J Autism Dev Disord. 2009 Dec;39(12):1629-35. doi: 10.1007/s10803-009-0807-3. Epub 2009 Jul 16.
2
Protective effects of melatonin against oxidative stress in Fmr1 knockout mice: a therapeutic research model for the fragile X syndrome.褪黑素对脆性X综合征治疗研究模型Fmr1基因敲除小鼠氧化应激的保护作用
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A pilot open label, single dose trial of fenobam in adults with fragile X syndrome.
Molecules. 2021 Aug 13;26(16):4913. doi: 10.3390/molecules26164913.
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Channelopathies in fragile X syndrome.脆性 X 综合征中的通道病。
Nat Rev Neurosci. 2021 May;22(5):275-289. doi: 10.1038/s41583-021-00445-9. Epub 2021 Apr 7.
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New Targeted Treatments for Fragile X Syndrome.脆性X综合征的新型靶向治疗方法。
Curr Pediatr Rev. 2019;15(4):251-258. doi: 10.2174/1573396315666190625110748.
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New Therapeutic Options for Fragile X Syndrome.脆性X综合征的新治疗选择
Curr Treat Options Neurol. 2019 Feb 27;21(3):12. doi: 10.1007/s11940-019-0551-8.
7
[A review on the role of γ-aminobutyric acid signaling pathway in autism spectrum disorder].[γ-氨基丁酸信号通路在自闭症谱系障碍中的作用综述]
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Nov;20(11):974-978. doi: 10.7499/j.issn.1008-8830.2018.11.019.
8
Fragile X targeted pharmacotherapy: lessons learned and future directions.脆性X综合征靶向药物治疗:经验教训与未来方向。
J Neurodev Disord. 2017 Jun 12;9:7. doi: 10.1186/s11689-017-9186-9. eCollection 2017.
9
Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety.阿坎酸在脆性X综合征小鼠模型中的作用:对自发皮质活动、ERK1/2激活、运动行为和焦虑的调节
J Neurodev Disord. 2017 Jun 12;9:6. doi: 10.1186/s11689-017-9184-y. eCollection 2017.
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Behav Neurol. 2016;2016:8781725. doi: 10.1155/2016/8781725. Epub 2016 Dec 15.
一项针对脆性X综合征成人患者的非诺班开放标签单剂量试验。
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Acute effects of acamprosate and MPEP on ethanol Drinking-in-the-Dark in male C57BL/6J mice.阿坎酸和MPEP对雄性C57BL/6J小鼠黑暗中饮酒的急性影响。
Alcohol Clin Exp Res. 2008 Nov;32(11):1992-8. doi: 10.1111/j.1530-0277.2008.00787.x. Epub 2008 Sep 6.
6
Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome.锂盐开放标签治疗试验以针对脆性X综合征的潜在缺陷
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Metabotropic glutamate receptor 5 (mGluR5) regulation of ethanol sedation, dependence and consumption: relationship to acamprosate actions.代谢型谷氨酸受体5(mGluR5)对乙醇镇静、依赖性和消耗量的调节:与阿坎酸作用的关系。
Int J Neuropsychopharmacol. 2008 Sep;11(6):775-93. doi: 10.1017/S1461145708008584. Epub 2008 Apr 1.