Mutation in causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.
作者信息
Cortese Andrea, Callegari Ilaria, Currò Riccardo, Vegezzi Elisa, Colnaghi Silvia, Versino Maurizio, Alfonsi Enrico, Cosentino Giuseppe, Valente Enzamaria, Gana Simone, Tassorelli Cristina, Pichiecchio Anna, Rossor Alexander M, Bugiardini Enrico, Biroli Antonio, Di Capua Daniela, Houlden Henry, Reilly Mary M
机构信息
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy
Department for Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1237-1238. doi: 10.1136/jnnp-2020-323719. Epub 2020 Sep 17.
Abstract
摘要
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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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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.RNF170 中的双等位基因变异与遗传性痉挛性截瘫有关。
Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9.
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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.
4
Sensory neuronopathies.感觉神经元病
Muscle Nerve. 2016 Jan;53(1):8-19. doi: 10.1002/mus.24943. Epub 2015 Nov 23.
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Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia.缺乏与人类常染色体显性感觉共济失调相关的Rnf170基因的小鼠存在年龄依赖性步态异常。
Hum Mol Genet. 2015 Dec 20;24(25):7196-206. doi: 10.1093/hmg/ddv417. Epub 2015 Oct 3.
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A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling.泛素连接酶RNF170中的一个点突变导致常染色体显性遗传性感觉共济失调，该突变使蛋白质不稳定并损害肌醇1,4,5 -三磷酸受体介导的Ca2+信号传导。
J Biol Chem. 2015 May 29;290(22):13948-57. doi: 10.1074/jbc.M115.655043. Epub 2015 Apr 16.
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