RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
作者信息
Kumar Kishore R, Cortese Andrea, Tomlinson Susan E, Efthymiou Stephanie, Ellis Melina, Zhu Danqing, Stoll Marion, Dominik Natalia, Tisch Stephen, Tchan Michel, Wu Kathy H C, Devery Sophie, Spring Penelope J, Hawke Simon, Cremer Phillip, Ng Karl, Reilly Mary M, Nicholson Garth A, Houlden Henry, Kennerson Marina
机构信息
Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.
出版信息
Brain. 2020 Oct 1;143(10):e82. doi: 10.1093/brain/awaa244.
Abstract
摘要
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RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.RFC1基因扩增可模拟伴有咳嗽的遗传性感觉神经病和干燥综合征。
Brain. 2020 Oct 1;143(10):e82. doi: 10.1093/brain/awaa244.
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本文引用的文献
1
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.RFC1 重复扩展导致的小脑性共济失调、神经病、前庭反射消失综合征。
Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418.
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Investigation of the Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.加拿大和巴西共济失调队列中重复扩增的研究：新型构象的鉴定
Front Genet. 2019 Nov 22;10:1219. doi: 10.3389/fgene.2019.01219. eCollection 2019.
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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.
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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.
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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.
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Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.伴有慢性咳嗽和胃食管反流的常染色体显性遗传性感觉神经病：与3号染色体p22 - p24区域连锁的两个家系的临床特征
Brain. 2005 Dec;128(Pt 12):2797-810. doi: 10.1093/brain/awh653.
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A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.3号染色体p22 - p24区域上伴有咳嗽和胃食管反流的遗传性感觉神经病的一个基因座。
Am J Hum Genet. 2003 Sep;73(3):632-7. doi: 10.1086/377591. Epub 2003 Jul 17.
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