Clinical phenotyping is key to differentiating <i>RFC1</i>-associated neuropathy from immune-mediated neuropathy-Reference-Cited by-同舟云学术

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

Published:2024 Issue:4 Volume:6 Page:
ISSN:2632-1297
Container-title:Brain Communications
language:en
Short-container-title:

Author:

Siow Sue-Faye¹²^ORCID,Kumar Kishore Raj²³⁴⁵

Affiliation:

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

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).

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcae212/58240331/fcae212.pdf

Reference9 articles.

1. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia;Cortese;Nat Genet,2019

2. RFC1 expansions are a common cause of idiopathic sensory neuropathy;Currò;Brain,2021

3. RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome;Kumar;Brain,2020

5. Pathologic RFC1 expansions do not contribute to the development of inflammatory neuropathies;Nagy;Brain Commun,2024