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

**Authors:** Sue-Faye Siow, Kishore Raj Kumar

PMC · DOI: 10.1093/braincomms/fcae212 · Brain Communications · 2024-06-15

## TL;DR

The paper discusses how clinical phenotyping helps distinguish RFC1-related neuropathy from immune-related neuropathy.

## Contribution

It emphasizes the importance of clinical features in differentiating RFC1-associated neuropathy from immune-mediated forms.

## Key findings

- RFC1 repeat expansions are not linked to inflammatory neuropathies.
- Clinical phenotyping is essential for accurate diagnosis and differentiation of neuropathy types.

## 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).

## Linked entities

- **Genes:** RFC1 (replication factor C subunit 1) [NCBI Gene 5981]

## Full-text entities

- **Genes:** RFC1 (replication factor C subunit 1) [NCBI Gene 5981] {aka A1, CANVAS, MHCBFB, PO-GA, RECC1, RFC}
- **Diseases:** neuropathy (MESH:D009422), inflammatory neuropathies (MESH:D020330), immune-mediated neuropathy (MESH:C567355)

## Full text

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## References

9 references — full list in the complete paper: https://tomesphere.com/paper/PMC11229695/full.md

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Source: https://tomesphere.com/paper/PMC11229695