The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s12311-022-01401-8.pdf
Reference31 articles.
1. Dupré M, Hermann R, Froment TC. Update on cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Cerebellum. 2021;20(5):687–700. https://doi.org/10.1007/s12311-020-01192-w.
2. Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann N Y Acad Sci. 2011;1233:139–47. https://doi.org/10.1111/j.1749-6632.2011.06158.x.
3. Wu TY, Taylor JM, Kilfoyle DH, Smith AD, McGuinness BJ, Simpson MP, et al. Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia ‘CANVAS’ syndrome. Brain. 2014;137(Pt 10):2649–56. https://doi.org/10.1093/brain/awu196. Epub 2014 Jul 28. Erratum in: Brain. 2015 Feb;138(Pt 2): e329.
4. Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019;51(4):649–58. https://doi.org/10.1038/s41588-019-0372-4.
5. Beecroft SJ, Cortese A, Sullivan R, Yau WY, Dyer Z, Wu TY, et al. A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. Brain. 2020;143(9):2673–80. https://doi.org/10.1093/brain/awaa203.
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1. RFC1: Motifs and phenotypes;Revue Neurologique;2024-05
2. Correction to: The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation;The Cerebellum;2022-07-05
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