-Associated Movement Disorder.
作者信息
Dhamija Radhika, Mink Jonathan W, Shah Binit B, Goodkin Howard P
机构信息
Department of Neurology University of Virginia Charlottesville Virginia USA.
Department of Neurology University of Rochester Rochester New York USA.
出版信息
Mov Disord Clin Pract. 2016 Mar 11;3(6):615-617. doi: 10.1002/mdc3.12344. eCollection 2016 Nov-Dec.
Abstract
摘要
相似文献
1
-Associated Movement Disorder.- 相关性运动障碍。
Mov Disord Clin Pract. 2016 Mar 11;3(6):615-617. doi: 10.1002/mdc3.12344. eCollection 2016 Nov-Dec.
2
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.6例因GNAO1突变导致严重且独特运动障碍的儿童的临床病程
Pediatr Neurol. 2016 Jun;59:81-4. doi: 10.1016/j.pediatrneurol.2016.02.018. Epub 2016 Mar 17.
3
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.
4
Clinical Phenotype of De Novo Mutation: Case Report and Review of Literature.新发突变的临床表型：病例报告及文献综述
Child Neurol Open. 2015 May 5;2(2):2329048X15583717. doi: 10.1177/2329048X15583717. eCollection 2015 Apr-Jun.
5
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.
6
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.
7
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.GNAO1 脑病：对一种影响女性的严重神经发育综合征的进一步描述。
Orphanet J Rare Dis. 2016 Apr 12;11:38. doi: 10.1186/s13023-016-0416-0.
8
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.与发育迟缓及运动障碍相关的复发性GNAO1突变
J Child Neurol. 2016 Dec;31(14):1598-1601. doi: 10.1177/0883073816666474. Epub 2016 Sep 12.
9
A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features.一名患有GNAO1突变的患者，具有自发运动减少、肌张力减退和肌张力障碍特征。
Brain Dev. 2018 Nov;40(10):926-930. doi: 10.1016/j.braindev.2018.06.005. Epub 2018 Jun 21.
10
Overexpression of GNAO1 correlates with poor prognosis in patients with gastric cancer and plays a role in gastric cancer cell proliferation and apoptosis.GNAO1 的过表达与胃癌患者的不良预后相关，并且在胃癌细胞增殖和凋亡中发挥作用。
Int J Mol Med. 2014 Mar;33(3):589-96. doi: 10.3892/ijmm.2013.1598. Epub 2013 Dec 20.
引用本文的文献
1
Decoding GNAO1 mutations using model system: past approaches and future prospectives.利用模型系统解码GNAO1突变：过去的方法和未来的前景
Front Cell Neurosci. 2025 Jul 23;19:1633744. doi: 10.3389/fncel.2025.1633744. eCollection 2025.
2
Visual Function in Children with GNAO1-Related Encephalopathy.GNAO1 相关性脑病患儿的视觉功能。
Genes (Basel). 2023 Feb 22;14(3):544. doi: 10.3390/genes14030544.
3
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.
4
Treating mutation-related severe movement disorders with oxcarbazepine: a case report.用奥卡西平治疗与突变相关的严重运动障碍：一例报告。
Transl Pediatr. 2022 Sep;11(9):1577-1587. doi: 10.21037/tp-22-297.
5
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.GNAO1基因的性腺嵌合现象导致伴有不自主运动的神经发育障碍；另外两个变异体。
Mol Genet Metab Rep. 2022 Apr 18;31:100864. doi: 10.1016/j.ymgmr.2022.100864. eCollection 2022 Jun.
6
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.
7
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.秀丽隐杆线虫为 GNAO1 相关疾病提供了高效的药物筛选平台，并凸显了咖啡因在控制运动障碍方面的潜在作用。
Hum Mol Genet. 2022 Mar 21;31(6):929-941. doi: 10.1093/hmg/ddab296.
8
GNAO1 mutation presenting as dyskinetic cerebral palsy.表现为运动障碍型脑性瘫痪的GNAO1基因突变
Neurol Sci. 2019 Oct;40(10):2213-2216. doi: 10.1007/s10072-019-03964-7. Epub 2019 Jun 12.
9
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.与 GNAO1 鸟苷三磷酸结合区相关的神经发育疾病谱。
Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25.
10
Movement disorder in encephalopathy associated with gain-of-function mutations.与功能获得性突变相关的脑病中的运动障碍。
Neurology. 2017 Aug 22;89(8):762-770. doi: 10.1212/WNL.0000000000004262. Epub 2017 Jul 26.
本文引用的文献
1
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.与腺苷酸环化酶5相关的运动障碍：更广泛的谱系及基因型-表型相关性
Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.
2
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.精子发生相关蛋白5（SPATA5）的突变与小头畸形、智力障碍、癫痫和听力损失有关。
Am J Hum Genet. 2015 Sep 3;97(3):457-64. doi: 10.1016/j.ajhg.2015.07.014. Epub 2015 Aug 20.
3
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.
4
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.GNAO1基因变异的表型谱：从癫痫性脑病到伴有严重发育迟缓的不自主运动。
Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13.
5
Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?Gnao1功能获得性突变：一种癫痫样脑病（EIEE17）的小鼠模型？
Mamm Genome. 2014 Jun;25(5-6):202-10. doi: 10.1007/s00335-014-9509-z. Epub 2014 Apr 5.
6
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.GNAO1 基因中的新生突变，该基因编码异三聚体 G 蛋白的 Gαo 亚基，可导致癫痫性脑病。
Am J Hum Genet. 2013 Sep 5;93(3):496-505. doi: 10.1016/j.ajhg.2013.07.014. Epub 2013 Aug 29.
7
Tetrabenazine in the treatment of severe pediatric chorea.丁苯那嗪治疗小儿重度舞蹈症
Mov Disord. 2003 Jun;18(6):703-6. doi: 10.1002/mds.10427.
8
Long-term effects of tetrabenazine in hyperkinetic movement disorders.丁苯那嗪在运动亢进性运动障碍中的长期影响。
Neurology. 1997 Feb;48(2):358-62. doi: 10.1212/wnl.48.2.358.
9
Physical and immunological characterization of a guanine nucleotide-binding protein purified from bovine cerebral cortex.从牛大脑皮层纯化的一种鸟嘌呤核苷酸结合蛋白的物理和免疫学特性
J Biol Chem. 1985 Sep 5;260(19):10864-71.
Zotero 插件