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Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants.

作者信息

De Santis Tiziana, Serpieri Valentina, Biagini Tommaso, Lanotte Michele, Criffò Carlotta, Mazza Tommaso, Valente Enza Maria, Albanese Alberto

机构信息

Department of Neurology IRCCS Humanitas Research Hospital Rozzano, Milan Italy.

Neurogenetics Research Center IRCCS Mondino Foundation Pavia Italy.

出版信息

Mov Disord Clin Pract. 2023 Apr 27;10(6):1020-1023. doi: 10.1002/mdc3.13749. eCollection 2023 Jun.

DOI:10.1002/mdc3.13749
PMID:37332652
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10272896/
Abstract
摘要

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本文引用的文献

1
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants.一种与新型 PMPCA 变异相关的严重常染色体隐性脊髓小脑共济失调形式。
Brain Dev. 2021 Mar;43(3):464-469. doi: 10.1016/j.braindev.2020.11.008. Epub 2020 Dec 1.
2
Teaching NeuroImages: Leigh-like features expand the picture of -related disorders.教学神经影像：类 Leigh 特征拓展了与……相关疾病的图景。 （注：原文中“-related disorders”前缺少具体内容）
Neurology. 2019 Jan 8;92(2):e168-e169. doi: 10.1212/WNL.0000000000006740.
3
Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options.遗传性肌张力障碍共济失调综合征：临床谱、诊断方法及治疗选择
Mov Disord Clin Pract. 2018 Jul 3;5(4):373-382. doi: 10.1002/mdc3.12635. eCollection 2018 Jul-Aug.
4
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.线粒体加工肽酶-α蛋白（PMPCA）的底物结合富含甘氨酸环中的突变会导致严重的线粒体疾病。
Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000786. doi: 10.1101/mcs.a000786.
5
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.由PMPCA基因纯合突变引起的常染色体隐性遗传性小脑共济失调。
Brain. 2016 Mar;139(Pt 3):e19. doi: 10.1093/brain/awv362. Epub 2015 Dec 10.
6
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.PMPCA突变导致非进行性小脑共济失调患者线粒体蛋白加工异常。
Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25.
7
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.孤立性和复合型肌张力障碍综合征——新基因及其表型的最新进展
Eur J Neurol. 2015 Apr;22(4):610-7. doi: 10.1111/ene.12650. Epub 2015 Jan 29.
8
Phenomenology and classification of dystonia: a consensus update.特发性运动障碍的现象学和分类：共识更新。
Mov Disord. 2013 Jun 15;28(7):863-73. doi: 10.1002/mds.25475. Epub 2013 May 6.
9
Mitochondrial protein import: from transport pathways to an integrated network.线粒体蛋白导入：从运输途径到整合网络。
Trends Biochem Sci. 2012 Mar;37(3):85-91. doi: 10.1016/j.tibs.2011.11.004. Epub 2011 Dec 16.