Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
作者信息
Schierbaum Luca, Quiroz Vicente, Tam Amy, Zubair Umar, Tochen Laura, Srouji Rasha, Yang Kathryn, Ebrahimi-Fakhari Darius
机构信息
Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Department of Neurology, Children's National Hospital, Washington, DC, USA.
出版信息
Mov Disord Clin Pract. 2024 Dec;11(12):1620-1624. doi: 10.1002/mdc3.14226. Epub 2024 Oct 5.
Abstract
摘要
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本文引用的文献
1
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.遗传性痉挛性截瘫大样本的临床和遗传学特征。
Mov Disord. 2024 Apr;39(4):651-662. doi: 10.1002/mds.29728. Epub 2024 Jan 31.
2
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.双等位基因 COQ4 变异与遗传性痉挛性截瘫：临床与分子特征。
Mov Disord. 2024 Jan;39(1):152-163. doi: 10.1002/mds.29664. Epub 2023 Nov 28.
3
Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.COQ4基因的双等位基因变异导致遗传性痉挛性截瘫为主的表型。
CNS Neurosci Ther. 2024 Apr;30(4):e14529. doi: 10.1111/cns.14529. Epub 2023 Nov 27.
4
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.双等位基因 COQ4 变异导致成人发病的共济失调-痉挛谱系疾病。
Mov Disord. 2022 Oct;37(10):2147-2153. doi: 10.1002/mds.29167. Epub 2022 Sep 1.
5
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.人类 COQ4 缺乏症：描绘临床、代谢和神经影像学表型。
J Med Genet. 2022 Sep;59(9):878-887. doi: 10.1136/jmedgenet-2021-107729. Epub 2021 Oct 16.
6
Hereditary spastic paraplegia.遗传性痉挛性截瘫
Handb Clin Neurol. 2018;148:633-652. doi: 10.1016/B978-0-444-64076-5.00041-7.
7
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.遗传性痉挛性截瘫：608 例患者的临床遗传学教训。
Ann Neurol. 2016 Apr;79(4):646-58. doi: 10.1002/ana.24611. Epub 2016 Mar 11.
8
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.辅酶Q生物合成的必需成分COQ4发生突变，可导致致命的新生儿线粒体脑病。
J Med Genet. 2015 Sep;52(9):627-35. doi: 10.1136/jmedgenet-2015-103140. Epub 2015 Jul 16.
9
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.COQ4基因突变导致一系列与辅酶Q10缺乏相关的线粒体疾病。
Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023.
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