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Article

CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy.

Scientific reports - 18 Oct 2023

Hirano Makito, Kuwahara Motoi, Yamagishi Yuko, Samukawa Makoto, Fujii Kanako, Yamashita Shoko, Ando Masahiro, Oka Nobuyuki, Nagano Mamoru, Matsui Taro, Takeuchi Toshihide, Saigoh Kazumasa, Kusunoki Susumu, Takashima Hiroshi, Nagai Yoshitaka

Abstract excerpt

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) has recently been attributed to biallelic repeat expansions in RFC1. More recently, the disease entity has expanded to atypical phenotypes, including chronic neuropathy without cerebellar ataxia or vestibular areflexia. Very recently, RFC1 expansions were found in patients with Sjögren syndrome who had neuropathy that did not respond to...

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Identifiers

PMID: 37853169
DOI: 10.1038/s41598-023-45011-8
PMCID: PMC10584897

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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