Pathogenic Mutation Presenting with Pure, Apparently Non-Progressive Hereditary Spastic Paraparesis.
作者信息
Agarwal Ayush, Garg Divyani, Garg Ajay, Srivastava Achal K
机构信息
Department of Neurology, AIIMS, New Delhi, India.
Department of Neuroradiology, AIIMS, New Delhi, India.
出版信息
Ann Indian Acad Neurol. 2023 Nov-Dec;26(6):1013-1014. doi: 10.4103/aian.aian_707_23. Epub 2023 Sep 25.
Abstract
摘要
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本文引用的文献
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RNASEH2B Pathogenic Gene Variant in Uncomplicated Hereditary Spastic Paraplegia: Report of a New Patient.单纯型遗传性痉挛性截瘫中的RNASEH2B致病基因变异：1例新患者报告
Neuropediatrics. 2018 Dec;49(6):419. doi: 10.1055/s-0038-1672174. Epub 2018 Sep 17.
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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.下一代测序对儿童起病遗传性痉挛性截瘫诊断的影响：罕见 HSP 相关基因的新基因型-表型相关性。
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Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.ADAR1、IFIH1和RNASEH2B基因的突变表现为痉挛性截瘫。
Neuropediatrics. 2014 Dec;45(6):386-93. doi: 10.1055/s-0034-1389161. Epub 2014 Sep 22.
4
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.遗传性痉挛性截瘫，具有常染色体显性、隐性、X 连锁或母系遗传特征。
J Neurol Sci. 2012 Jul 15;318(1-2):1-18. doi: 10.1016/j.jns.2012.03.025. Epub 2012 May 1.
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Clinical and molecular phenotype of Aicardi-Goutieres syndrome.艾卡迪-古铁雷斯综合征的临床和分子表型
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