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Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B.

作者信息

Borsche Max, Thomsen Mirja, Szmulewicz David J, Lübbers Bente, Hinrichs Frauke, Lockhart Paul J, Lohmann Katja, Helmchen Christoph, Brüggemann Norbert

机构信息

Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.

Department of Neurology, University of Lübeck and University Hospital Schleswig-Holstein, Campus Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.

出版信息

J Neurol. 2024 Feb;271(2):1023-1027. doi: 10.1007/s00415-023-12050-0. Epub 2023 Oct 20.

DOI:10.1007/s00415-023-12050-0
PMID:37861706
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10827886/
Abstract
摘要

相似文献

1
Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B.与FGF14相关的脊髓小脑共济失调27B相比，RFC1阳性的小脑萎缩伴神经感觉性听力丧失（CANVAS）中的双侧前庭病变明显不同。
J Neurol. 2024 Feb;271(2):1023-1027. doi: 10.1007/s00415-023-12050-0. Epub 2023 Oct 20.
2
Intronic GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.内含子 GAA 重复扩展是伴有周围神经病和双侧前庭病的共济失调综合征的常见病因。
J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):175-179. doi: 10.1136/jnnp-2023-331490.
3
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.下跳性眼球震颤综合征中的 RFC1 重复序列扩增：频率和表型特征
J Neurol. 2024 May;271(5):2886-2892. doi: 10.1007/s00415-024-12229-z. Epub 2024 Feb 21.
4
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.西班牙迟发性小脑共济失调队列中 SCA27B 及其他遗传性共济失调的频率和表型谱。
Eur J Neurol. 2023 Dec;30(12):3828-3833. doi: 10.1111/ene.16039. Epub 2023 Aug 27.
5
Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience.基于临床表型可怀疑27B型脊髓小脑共济失调：麻省总医院共济失调中心的经验
Cerebellum. 2025 Jul 18;24(5):133. doi: 10.1007/s12311-025-01882-3.
6
Bilateral vestibulopathy as the initial presentation of CANVAS.双侧前庭病变作为 CANVAS 的初始表现。
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7
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.日本家系中存在双等位基因 ACAGG 扩展导致 RFC1 表现出运动神经元病伴肌肉痉挛性疼痛的综合分析
Cerebellum. 2024 Aug;23(4):1498-1508. doi: 10.1007/s12311-024-01666-1. Epub 2024 Feb 7.
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CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.CANVAS：由双等位基因内含子 AAGGG 扩展引起的迟发性共济失调。
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RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.塞尔维亚小脑共济失调患者的 RFC1 和 FGF14 重复扩展。
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Can CANVAS due to biallelic expansions present with pure ataxia?CANVAS 能否由于双等位基因扩展而表现为单纯性共济失调？
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引用本文的文献

1
Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework.27B型脊髓小脑共济失调的眼球运动和前庭特征：构建实用的床边诊断框架
Cerebellum. 2025 Sep 4;24(5):149. doi: 10.1007/s12311-025-01906-y.
2
Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.遗传性共济失调临床试验的最佳动眼神经终点：共济失调全球倡议数字运动生物标志物工作组的系统评价与共识
Cerebellum. 2025 Aug 13;24(5):141. doi: 10.1007/s12311-025-01894-z.
3
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.

本文引用的文献

1
Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".FGF14基因中的非GAA重复序列扩增可能不具有致病性——对《撼动共济失调：智利一个家族中患病和未患病成员的FGF14和RFC1重复序列扩增》的回复
Mov Disord. 2023 Aug;38(8):1575-1577. doi: 10.1002/mds.29552.
2
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).GAA-FGF14 散发性晚发性小脑共济失调（SCA27B）的自然病史和表型谱。
Mov Disord. 2023 Oct;38(10):1950-1956. doi: 10.1002/mds.29560. Epub 2023 Jul 20.
3
共济失调遗传学的最新进展：新型常染色体显性重复序列扩增的最新情况
Curr Neurol Neurosci Rep. 2025 Jan 16;25(1):16. doi: 10.1007/s11910-024-01400-8.
4
Quantitative Oculomotor and Vestibular Profile in Spinocerebellar Ataxia Type 6 - Systematic Review and Meta-Analysis.6型脊髓小脑共济失调的定量动眼神经和前庭特征——系统评价与荟萃分析
Cerebellum. 2024 Dec 15;24(1):12. doi: 10.1007/s12311-024-01774-y.
5
How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.如何从迟发性小脑共济失调中鉴别脊髓小脑共济失调27B型：一项病例对照研究的见解
J Neurol. 2024 Dec 12;272(1):45. doi: 10.1007/s00415-024-12738-x.
6
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.下跳性眼球震颤综合征中的 RFC1 重复序列扩增：频率和表型特征
J Neurol. 2024 May;271(5):2886-2892. doi: 10.1007/s00415-024-12229-z. Epub 2024 Feb 21.
7
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.脊髓小脑共济失调27B型：一种新型、常见且可能可治疗的共济失调。
Clin Transl Med. 2024 Jan;14(1):e1504. doi: 10.1002/ctm2.1504.
Intronic GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
内含子 GAA 重复扩展是伴有周围神经病和双侧前庭病的共济失调综合征的常见病因。
J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):175-179. doi: 10.1136/jnnp-2023-331490.
4
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.FGF14基因内含子中的GAA重复序列扩增导致常染色体显性成年起病型共济失调SCA27B/ATX-FGF14。
Am J Hum Genet. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005.
5
Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family.震颤性共济失调：智利一个家族中患病和未患病成员的FGF14和RFC1重复序列扩增
Mov Disord. 2023 Jun;38(6):1107-1109. doi: 10.1002/mds.29390. Epub 2023 May 29.
6
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. Reply.迟发性小脑共济失调中内含子深处FGF14基因GAA重复序列扩展。回复。
N Engl J Med. 2023 May 25;388(21):e70. doi: 10.1056/NEJMc2301605.
7
Two RFC1 splicing variants in CANVAS.CANVAS中的两种RFC1剪接变体。
Brain. 2023 Mar 1;146(3):e14-e16. doi: 10.1093/brain/awac466.
8
Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS.对基因明确的CANVAS患者双侧前庭病进行摇头试验。
Brain Behav. 2022 Jun;12(6):e32546. doi: 10.1002/brb3.2546. Epub 2022 May 2.
9
The Pathology of the Vestibular System in CANVAS.小脑萎缩伴维生素E缺乏症（CANVAS）中前庭系统的病理学
Otol Neurotol. 2021 Mar 1;42(3):e332-e340. doi: 10.1097/MAO.0000000000002985.
10
Clinical spectrum of the pentanucleotide repeat expansion in the gene in ataxia syndromes.在共济失调综合征中基因的五核苷酸重复扩展的临床谱。
Neurology. 2020 Nov 24;95(21):e2912-e2923. doi: 10.1212/WNL.0000000000010744. Epub 2020 Sep 1.