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Parkinsonism and Positive Dopamine Transporter Imaging in a Patient with a Novel KMT2B Variant.

作者信息

Feuerstein Jeanne S, Taylor Matthew, Kwak Jennifer J, Berman Brian D

机构信息

Department of Neurology University of Colorado School of Medicine Aurora Colorado USA.

Department of Neurology Rocky Mountain Regional VA Medical Center Aurora Colorado USA.

出版信息

Mov Disord Clin Pract. 2021 Feb 2;8(2):279-281. doi: 10.1002/mdc3.13140. eCollection 2021 Feb.

DOI:10.1002/mdc3.13140
PMID:33816656
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8008275/
Abstract
摘要

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本文引用的文献

1
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.NR4A2 基因功能丧失突变导致多巴反应性肌张力障碍帕金森综合征。
Mov Disord. 2020 May;35(5):880-885. doi: 10.1002/mds.27982. Epub 2020 Jan 10.
2
Update on KMT2B-Related Dystonia.KMT2B 相关肌张力障碍的最新进展。
Curr Neurol Neurosci Rep. 2019 Nov 25;19(11):92. doi: 10.1007/s11910-019-1007-y.
3
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.儿童期 KMT2B 肌张力障碍的频率和表型谱：一项单中心队列研究。
Mov Disord. 2019 Oct;34(10):1516-1527. doi: 10.1002/mds.27771. Epub 2019 Jun 19.
4
Mutations Associated With a Complex Phenotype Resembling Dopa-Responsive Dystonia.与类似多巴反应性肌张力障碍复杂表型相关的突变
Mov Disord Clin Pract. 2015 Apr 28;2(2):149-154. doi: 10.1002/mdc3.12144. eCollection 2015 Jun.
5
Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.由 ACTB p.Arg183Trp 杂合性引起的肌张力障碍-耳聋综合征表现出纹状体多巴胺能功能障碍和对苍白球刺激的反应。
J Neurodev Disord. 2018 May 22;10(1):17. doi: 10.1186/s11689-018-9235-z.
6
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.组蛋白甲基转移酶基因 KMT2B 的突变导致复杂型早发性肌张力障碍。
Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19.
7
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.编码赖氨酸特异性组蛋白甲基转移酶2B的KMT2B单倍剂量不足导致早发性全身性肌张力障碍。
Am J Hum Genet. 2016 Dec 1;99(6):1377-1387. doi: 10.1016/j.ajhg.2016.10.010. Epub 2016 Nov 10.
8
Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia.纹状体和丘脑多巴胺神经传递异常：肌张力障碍的基因型相关特征。
Neurology. 2009 Jun 16;72(24):2097-103. doi: 10.1212/WNL.0b013e3181aa538f.
9
Induction of bradykinesia with pallidal deep brain stimulation in patients with cranial-cervical dystonia.苍白球深部脑刺激诱发颅颈肌张力障碍患者运动迟缓
Stereotact Funct Neurosurg. 2009;87(1):37-44. doi: 10.1159/000195718. Epub 2009 Jan 28.