• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report.

作者信息

Yamashita Yuri, Ogawa Takashi, Ogaki Kotaro, Kamo Hikaru, Sukigara Tomomi, Kitahara Eriko, Izawa Nana, Iwamuro Hirokazu, Oyama Genko, Kamagata Koji, Hatano Taku, Umemura Atsushi, Kosaki Rika, Kubota Masaya, Shimo Yasushi, Hattori Nobutaka

机构信息

Department of Neurology, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan; Aging Biology in Health and Disease, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan.

Department of Neurology, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan.

出版信息

J Neurol Sci. 2020 Apr 15;411:116710. doi: 10.1016/j.jns.2020.116710. Epub 2020 Jan 31.

DOI:10.1016/j.jns.2020.116710
PMID:32044685
Abstract
摘要

相似文献

1
Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report.一名患有GNAO1相关运动障碍患者的神经影像学评估以及使用定向深部脑刺激和左旋多巴的成功治疗：病例报告
J Neurol Sci. 2020 Apr 15;411:116710. doi: 10.1016/j.jns.2020.116710. Epub 2020 Jan 31.
2
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.携带GNAO1突变的兄弟中出现的对深部脑刺激有反应的进行性运动障碍。
J Child Neurol. 2016 Feb;31(2):211-4. doi: 10.1177/0883073815587945. Epub 2015 Jun 9.
3
A case of severe movement disorder with GNAO1 mutation responsive to topiramate.1例对托吡酯有反应的伴有GNAO1突变的严重运动障碍病例。
Brain Dev. 2017 May;39(5):439-443. doi: 10.1016/j.braindev.2016.11.009. Epub 2017 Jan 6.
4
Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis.一名患有GNAO1相关进行性舞蹈手足徐动症的年轻女孩对深部脑刺激有良好反应。
Childs Nerv Syst. 2016 Sep;32(9):1567-8. doi: 10.1007/s00381-016-3139-6. Epub 2016 Jun 9.
5
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.深部脑刺激对 GNAO1 相关严重运动过度的儿科患者有效。
J Neurol Sci. 2018 Aug 15;391:31-39. doi: 10.1016/j.jns.2018.05.018. Epub 2018 May 22.
6
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.一个导致框架内插入的 GNAO1 内含子变异导致运动障碍，可通过深部脑刺激来控制。
Neurogenetics. 2022 Apr;23(2):129-135. doi: 10.1007/s10048-022-00686-5. Epub 2022 Feb 11.
7
GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS.伴有危及生命的病情加重的GNAO1相关运动障碍：运动现象学及对脑深部电刺激的反应
J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):221-222. doi: 10.1136/jnnp-2017-315653. Epub 2017 Jul 1.
8
Mice with R209H Movement Disorder Variant Display Hyperlocomotion Alleviated by Risperidone.携带 R209H 运动障碍变异的小鼠表现出过度活跃，利培酮可缓解该症状。
J Pharmacol Exp Ther. 2020 Apr;373(1):24-33. doi: 10.1124/jpet.119.262733. Epub 2020 Jan 6.
9
GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation.苍白球深部脑刺激术对GNAO1突变诱发的小儿肌张力障碍风暴的救治
J Child Neurol. 2018 May;33(6):413-416. doi: 10.1177/0883073818756134.
10
Genotype-phenotype correlation and treatment effects in young patients with -associated disorders.- 相关疾病年轻患者的基因型-表型相关性和治疗效果。
J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):806-815. doi: 10.1136/jnnp-2022-330261. Epub 2023 May 24.

引用本文的文献

1
The Spectrum of GNAO1 Mutation Can Include Childhood-Onset Isolated Generalized Dystonia.GNAO1 基因突变谱可能包括儿童期起病的孤立性全身性肌张力障碍。
Mov Disord Clin Pract. 2025 Mar;12(3):383-385. doi: 10.1002/mdc3.14291. Epub 2024 Dec 2.
2
Dyskinetic crisis in -related disorders: clinical perspectives and management strategies.运动障碍相关疾病中的运动障碍危象：临床观点与管理策略。
Front Neurol. 2024 Jun 6;15:1403815. doi: 10.3389/fneur.2024.1403815. eCollection 2024.
3
Phenotypes in children with encephalopathy in China.中国患有脑病儿童的表型。
Front Pediatr. 2023 Aug 29;11:1086970. doi: 10.3389/fped.2023.1086970. eCollection 2023.
4
GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.GNAO1相关神经发育障碍：文献综述与照料者调查
Epilepsy Behav Rep. 2022 Dec 31;21:100582. doi: 10.1016/j.ebr.2022.100582. eCollection 2023.
5
Deep brain stimulation in a young child with mutation - Feasible and helpful.对一名患有突变的幼儿进行深部脑刺激——可行且有益。
Surg Neurol Int. 2022 Jul 1;13:285. doi: 10.25259/SNI_166_2022. eCollection 2022.
6
DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1.DBS 急诊手术治疗 DYT-GNAO1 相关横纹肌溶解症和急性结肠炎引起的肌张力障碍性风暴。
Childs Nerv Syst. 2022 Sep;38(9):1821-1824. doi: 10.1007/s00381-022-05582-9. Epub 2022 Jun 20.
7
Highlighting the Dystonic Phenotype Related to GNAO1.凸显与 GNAO1 相关的肌张力障碍表型。
Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20.
8
Both subthalamic and pallidal deep brain stimulation are effective for -associated dystonia: three case reports and a literature review.丘脑底核和苍白球深部脑刺激对相关肌张力障碍均有效：三例病例报告及文献综述。
Ther Adv Neurol Disord. 2022 Apr 29;15:17562864221093507. doi: 10.1177/17562864221093507. eCollection 2022.
9
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.一个导致框架内插入的 GNAO1 内含子变异导致运动障碍，可通过深部脑刺激来控制。
Neurogenetics. 2022 Apr;23(2):129-135. doi: 10.1007/s10048-022-00686-5. Epub 2022 Feb 11.
10
Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.苍白球深部脑刺激治疗单基因肌张力障碍：基因对治疗结果的影响。
Front Neurol. 2021 Jan 8;11:630391. doi: 10.3389/fneur.2020.630391. eCollection 2020.