Expanding the Phenotypic Variability of PMPCA-Related Ataxia.
作者信息
Sanesteban-Beceiro Esteban, Fenollar-Cortés María, Herrero-Forte Clara, Gómez-Mayordomo Victor, Catalán-Alonso María J, Alonso-Frech Fernando
机构信息
Movement Disorders Unit, Neurology Department, IdISSC, Clínico San Carlos Hospital, Madrid, Spain.
Clinical Genetics Unit, Clinical Analysis Department, Institut of Laboratory Medicine, IdISSC, Clínico San Carlos Hospital, Madrid, Spain.
出版信息
Mov Disord Clin Pract. 2024 Jul;11(7):894-896. doi: 10.1002/mdc3.14057. Epub 2024 May 2.
Abstract
摘要
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本文引用的文献
1
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Neurol Genet. 2023 Nov 14;9(6):e200106. doi: 10.1212/NXG.0000000000200106. eCollection 2023 Dec.
2
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.遗传运动障碍命名：国际帕金森病与运动障碍学会工作组的建议——更新版。
Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28.
3
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.
4
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.
5
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.
6
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.
7
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.
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