Ears of the Lynx on Neuroimaging in a Patient with COQ4-Associated Hereditary Spastic Paraplegia.
作者信息
Yu Zhe, Wang Rongfei, Yu Shengyuan, Wang Xiangqing
机构信息
Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, China.
出版信息
Mov Disord Clin Pract. 2025 Mar;12(3):386-388. doi: 10.1002/mdc3.14282. Epub 2024 Nov 29.
Abstract
摘要
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本文引用的文献
1
Hereditary spastic paraplegia: Novel insights into the pathogenesis and management.遗传性痉挛性截瘫：发病机制与治疗的新见解
SAGE Open Med. 2023 Dec 29;12:20503121231221941. doi: 10.1177/20503121231221941. eCollection 2024.
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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
Clinical spectrum in multiple families with primary COQ deficiency.多家族原发性 COQ 缺陷的临床谱。
Am J Med Genet A. 2021 Feb;185(2):440-452. doi: 10.1002/ajmg.a.61983. Epub 2020 Nov 20.
6
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.原发性辅酶Q10缺乏症7型：中国南方人群中扩展的表型谱及一个奠基者突变
NPJ Genom Med. 2019 Aug 5;4:18. doi: 10.1038/s41525-019-0091-x. eCollection 2019.
7
"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.“山猫耳”MRI 征与 SPG11 和 SPG15 遗传性痉挛性截瘫相关。
AJNR Am J Neuroradiol. 2019 Jan;40(1):199-203. doi: 10.3174/ajnr.A5935. Epub 2019 Jan 3.
8
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.
9
Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15.钳夹小区域信号异常“猞猁耳”：15号染色体上spatacsin基因（SPG11）突变所致胼胝体变薄的痉挛性截瘫的早期MRI表现。
J Neuroimaging. 2009 Jan;19(1):52-60. doi: 10.1111/j.1552-6569.2008.00327.x. Epub 2008 Nov 21.
10
Coenzyme Q10: is there a clinical role and a case for measurement?辅酶Q10：它有临床作用且有必要进行检测吗？
Clin Biochem Rev. 2008 May;29(2):71-82.
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