Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B-Reference-Cited by-同舟云学术

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

Published:2023-10-20 Issue: Volume: Page:
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

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

Funder

Deutsche Forschungsgemeinschaft

Damp Stiftung

Universität zu Lübeck

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-023-12050-0.pdf

Reference17 articles.

1. Cortese A, Simone R, Sullivan R et al (2019) Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet 51:649–658. https://doi.org/10.1038/s41588-019-0372-4

2. Rafehi H, Szmulewicz DJ, Bennett MF et al (2019) Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS. Am J Hum Genet 105:151–165. https://doi.org/10.1016/j.ajhg.2019.05.016

3. Cortese A, Tozza S, Yau WY et al (2020) Cerebellar ataxia, neuropathy, vestibular are flexia syndrome due to RFC1 repeat expansion. Brain 143:480–490. https://doi.org/10.1093/brain/awz418

4. Gisatulin M, Dobricic V, Zühlke C et al (2020) Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes. Neurology 95:e2912–e2923. https://doi.org/10.1212/WNL.0000000000010744

5. Rafehi H, Read J, Szmulewicz DJ et al (2023) An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14. Am J Hum Genet 110:1018. https://doi.org/10.1016/j.ajhg.2023.05.005

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile;Journal of Neurology;2024-02-21

2. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia;Clinical and Translational Medicine;2024-01