Clinical phenotyping is key to differentiating RFC1-associated neuropathy from immune-mediated neuropathy

Sue-Faye Siow^{1

2}, Kishore Raj Kumar^{2

3

4

5}

Affiliations

¹ Department of Clinical Genetics, Royal North Shore Hospital, St Leonards 2065, Australia.
² Sydney Medical School, University of Sydney, Camperdown 2050, Australia.
³ Translational Neurogenomics Group, Genomic and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst 2010, Australia.
⁴ Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord 2139, Australia.
⁵ School of Clinical Medicine, UNSW Medicine & Health, University of New South Wales, Kensington 2052, Australia.

PMID: 38978727
PMCID: PMC11229695
DOI: 10.1093/braincomms/fcae212

Clinical phenotyping is key to differentiating RFC1-associated neuropathy from immune-mediated neuropathy

Sue-Faye Siow et al. Brain Commun. 2024.

. 2024 Jun 15;6(4):fcae212.

doi: 10.1093/braincomms/fcae212. eCollection 2024.

Authors

Sue-Faye Siow^{1

2}, Kishore Raj Kumar^{2

3

4

5}

Affiliations

¹ Department of Clinical Genetics, Royal North Shore Hospital, St Leonards 2065, Australia.
² Sydney Medical School, University of Sydney, Camperdown 2050, Australia.
³ Translational Neurogenomics Group, Genomic and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst 2010, Australia.
⁴ Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord 2139, Australia.
⁵ School of Clinical Medicine, UNSW Medicine & Health, University of New South Wales, Kensington 2052, Australia.

PMID: 38978727
PMCID: PMC11229695
DOI: 10.1093/braincomms/fcae212

Abstract

This scientific commentary refers to 'Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies', by Nagy et al. (https://doi.org/10.1093/braincomms/fcae163).

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Conflict of interest statement

The authors report no competing interests.

Comment on

doi: 10.1093/braincomms/fcae163

References

1. Cortese A, Simone R, Sullivan R, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019;51(4):649–658. - PMC - PubMed
1. Currò R, Salvalaggio A, Tozza S, et al. RFC1 expansions are a common cause of idiopathic sensory neuropathy. Brain. 2021;144(5):1542–1550. - PMC - PubMed
1. Kumar KR, Cortese A, Tomlinson SE, et al. RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome. Brain. 2020;143(10):e82. - PMC - PubMed
1. Hirano M, Kuwahara M, Yamagishi Y, et al. CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy. Sci Rep. 2023;13(1):17801. - PMC - PubMed
1. Nagy S, Carr A, Mroczek M, et al. Pathologic RFC1 expansions do not contribute to the development of inflammatory neuropathies. Brain Commun. 2024;6:fcae163. - PMC - PubMed

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Clinical phenotyping is key to differentiating RFC1-associated neuropathy from immune-mediated neuropathy

Affiliations

Clinical phenotyping is key to differentiating RFC1-associated neuropathy from immune-mediated neuropathy

Authors

Affiliations

Abstract

Conflict of interest statement

Comment on

References

LinkOut - more resources

Full Text Sources