Juvenile Dystonia-Parkinsonism Due to Mutation.
作者信息
Garza-Brambila David, Esparza-Hernández Claudia Nallely, Ramirez-Zenteno Jorge, Martinez-Ramirez Daniel
机构信息
Tecnologico de Monterrey Escuela de Medicina y Ciencias de la Salud Monterrey Mexico.
Centro de Rehabilitación e Inclusión Infantil Teletón Chihuahua Mexico.
出版信息
Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S26-S28. doi: 10.1002/mdc3.13294. eCollection 2021 Aug.
Abstract
摘要
相似文献
1
Juvenile Dystonia-Parkinsonism Due to Mutation.由突变引起的青少年肌张力障碍-帕金森综合征
Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S26-S28. doi: 10.1002/mdc3.13294. eCollection 2021 Aug.
2
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.DNAJC6 突变破坏青少年帕金森病-肌张力障碍中的多巴胺稳态。
Mov Disord. 2020 Aug;35(8):1357-1368. doi: 10.1002/mds.28063. Epub 2020 May 30.
3
Commentary: Juvenile Dystonia-Parkinsonism due to Mutation.评论：由突变引起的青少年肌张力障碍 - 帕金森综合征
Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S29-S31. doi: 10.1002/mdc3.13305. eCollection 2021 Aug.
4
DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.DNAJC6 负责具有表型可变性的青少年帕金森病。
Parkinsonism Relat Disord. 2013 Mar;19(3):320-4. doi: 10.1016/j.parkreldis.2012.11.006. Epub 2012 Dec 2.
5
Levodopa responsive-generalized dystonic spells and moaning in DNAJC6 related Juvenile Parkinson's disease.左旋多巴反应性-全身性肌张力障碍发作和呻吟在 DNAJC6 相关的青少年帕金森病中。
Parkinsonism Relat Disord. 2020 Dec;81:188-189. doi: 10.1016/j.parkreldis.2020.10.046. Epub 2020 Nov 5.
6
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.DNAJC6 突变与早发性帕金森病相关。
Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14.
7
[A case of familial juvenile dystonia-parkinsonism: 18F-6-fluorodopa and 18F-fluoro-2-deoxyglucose PET study].[一例家族性青少年肌张力障碍-帕金森综合征：18F-6-氟多巴和18F-氟代脱氧葡萄糖PET研究]
Rinsho Shinkeigaku. 1996 May;36(5):655-60.
8
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.DNAJC6 编码神经元特异性网格蛋白解包辅助蛋白 auxilin 的有害突变与青少年帕金森病有关。
PLoS One. 2012;7(5):e36458. doi: 10.1371/journal.pone.0036458. Epub 2012 May 1.
9
Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia Parkinsonism.阵发性膝关节弯曲性肌张力障碍和帕金森步态：X连锁肌张力障碍帕金森综合征的特征性表现。
Mov Disord Clin Pract. 2020 Mar 26;7(4):448-452. doi: 10.1002/mdc3.12929. eCollection 2020 May.
10
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.多巴胺转运体缺陷综合征：从婴儿期到成年期的表型谱。
Brain. 2014 Apr;137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10.
引用本文的文献
1
Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.遗传证据表明帕金森病中内溶酶体功能障碍：批判性综述。
Int J Mol Sci. 2023 Mar 28;24(7):6338. doi: 10.3390/ijms24076338.
2
Commentary: Juvenile Dystonia-Parkinsonism due to Mutation.评论：由突变引起的青少年肌张力障碍 - 帕金森综合征
Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S29-S31. doi: 10.1002/mdc3.13305. eCollection 2021 Aug.
本文引用的文献
1
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.DNAJC6 突变破坏青少年帕金森病-肌张力障碍中的多巴胺稳态。
Mov Disord. 2020 Aug;35(8):1357-1368. doi: 10.1002/mds.28063. Epub 2020 May 30.
2
Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence.从婴儿期到青春期遗传帕金森病的临床和神经影像学表型。
Brain. 2020 Mar 1;143(3):751-770. doi: 10.1093/brain/awz345.
3
Movement Disorders and Neurometabolic Diseases.运动障碍与神经代谢疾病
Semin Pediatr Neurol. 2018 Apr;25:82-91. doi: 10.1016/j.spen.2018.02.003. Epub 2018 Feb 14.
4
Teaching Neuro: Spinocerebellar ataxia type 3 presenting with a cock-walk gait phenotype.
Neurology. 2017 Oct 10;89(15):e192. doi: 10.1212/WNL.0000000000004497. Epub 2017 Oct 9.
5
Genetics of movement disorders in the next-generation sequencing era.下一代测序时代运动障碍的遗传学
Mov Disord. 2016 Apr;31(4):458-70. doi: 10.1002/mds.26521. Epub 2016 Feb 22.
6
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.DNAJC6 突变与早发性帕金森病相关。
Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14.
7
Acute hyperkinetic syndrome due to ephedrone abuse.因滥用甲基麻黄碱导致的急性运动增多综合征。
J Addict Med. 2015 May-Jun;9(3):244-5. doi: 10.1097/ADM.0000000000000048.
8
Inherited manganism: the "cock-walk" gait and typical neuroimaging features.遗传性锰中毒：“鸡步”步态及典型神经影像学特征。
J Neurol Sci. 2014 Jun 15;341(1-2):150-2. doi: 10.1016/j.jns.2014.03.057. Epub 2014 Apr 4.
9
Gait disorders.步态障碍
Continuum (Minneap Minn). 2013 Oct;19(5 Movement Disorders):1344-82. doi: 10.1212/01.CON.0000436159.33447.69.
10
DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.DNAJC6 负责具有表型可变性的青少年帕金森病。
Parkinsonism Relat Disord. 2013 Mar;19(3):320-4. doi: 10.1016/j.parkreldis.2012.11.006. Epub 2012 Dec 2.
Zotero 插件