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Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome: The First Genetically Confirmed Case in South Korea.

作者信息

Yun So-Yeon, Choi Seo Young, Lee Jin-Ok, Kim Hyo-Jung, Kim Ji-Soo

机构信息

Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Busan, Korea.

出版信息

J Clin Neurol. 2024 Nov;20(6):630-633. doi: 10.3988/jcn.2024.0232.

DOI:10.3988/jcn.2024.0232
PMID:39505317
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11543391/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ed7/11543391/e2a0e685484e/jcn-20-630-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ed7/11543391/e2a0e685484e/jcn-20-630-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ed7/11543391/e2a0e685484e/jcn-20-630-g001.jpg

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本文引用的文献

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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.重复扩增大小在预测RFC1疾病发病年龄和严重程度中的作用。
Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436.
2
RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.两种双等位基因 RFC1 扩展携带者中的 RNA 焦点。
Ann Neurol. 2024 Mar;95(3):607-613. doi: 10.1002/ana.26848. Epub 2023 Dec 27.
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Truncating Variants in in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.在小脑共济失调、神经病和前庭反射消失综合征中截断变异。
Neurology. 2023 Jan 31;100(5):e543-e554. doi: 10.1212/WNL.0000000000201486. Epub 2022 Oct 26.
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Expanding the Clinical Spectrum of RFC1 Gene Mutations.扩展 RFC1 基因突变的临床谱
J Mov Disord. 2022 May;15(2):167-170. doi: 10.14802/jmd.21117. Epub 2022 Mar 22.
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Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.利用可编程靶向纳米孔测序进行串联重复扩展疾病的综合基因诊断。
Sci Adv. 2022 Mar 4;8(9):eabm5386. doi: 10.1126/sciadv.abm5386.
6
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.基于生物信息学的重复序列鉴定：RFC1 中的非参考内含子五聚体扩展导致 CANVAS。
Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.
7
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.RFC1 内含子重复的双等位基因扩展是迟发性共济失调的常见原因。
Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29.
8
Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).伴有神经病变和前庭反射消失综合征的小脑共济失调（CANVAS）的拟诊标准。
Neurol Clin Pract. 2016 Feb;6(1):61-68. doi: 10.1212/CPJ.0000000000000215.
9
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis.小脑性共济失调、神经病、前庭反射消失综合征（CANVAS）：临床特征和视频眼震图诊断综述。
Ann N Y Acad Sci. 2011 Sep;1233:139-47. doi: 10.1111/j.1749-6632.2011.06158.x.
10
Studies on the interactions between human replication factor C and human proliferating cell nuclear antigen.人类复制因子C与人类增殖细胞核抗原之间相互作用的研究。
Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):1869-74. doi: 10.1073/pnas.96.5.1869.