Spastic Paraplegia 82 in Two Asian Indian Siblings With PCYT2 Mutations.
作者信息
Dash Anil, Mustafa Farsana, Garg Divyani, Samineni Sreeja, Agarwal Ayush, Garg Ajay, Srivastava Achal Kumar
机构信息
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Department of Neuroimaging and Interventional radiology, All India Institute of Medical Sciences, New Delhi, India.
出版信息
J Mov Disord. 2025 Apr;18(2):185-189. doi: 10.14802/jmd.24259. Epub 2025 Jan 31.
Abstract
摘要
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本文引用的文献
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The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.南非遗传性神经病和痉挛性截瘫队列中的突变谱。
Front Neurol. 2023 Aug 29;14:1239725. doi: 10.3389/fneur.2023.1239725. eCollection 2023.
2
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of .两兄弟患有轴索性多发性神经病，其 第一催化结构域存在纯合错义变异 。 （原文中“of”后面缺少具体内容）
Neurol Genet. 2022 Mar 1;8(2):e658. doi: 10.1212/NXG.0000000000000658. eCollection 2022 Apr.
3
Hereditary Spastic Paraplegia: An Update.遗传性痉挛性截瘫：最新进展
Int J Mol Sci. 2022 Feb 1;23(3):1697. doi: 10.3390/ijms23031697.
4
A novel PCYT2 mutation identified in a Chinese consanguineous family with hereditary spastic paraplegia.在中国一个患有遗传性痉挛性截瘫的近亲家庭中鉴定出一种新的PCYT2突变。
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5
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Brain. 2021 Apr 12;144(3):e30. doi: 10.1093/brain/awaa442.
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PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway.破坏醚脂生物合成的PCYT2突变：汇聚于CDP-乙醇胺途径的表型
Brain. 2021 Mar 3;144(2):e17. doi: 10.1093/brain/awaa389.
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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.PCYT2 基因突变会破坏醚脂的生物合成，导致一种复杂的遗传性痉挛性截瘫。
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