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Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?

Hadjivassiliou, Marios; Currò, Riccardo; Beauchamp, Nick; Dominik, Natalia; Grunewald, Richard A; Shanmugarajah, Priya; Zis, Panayiotis; ... Cortese, Andrea; + view all (2023) Can CANVAS due to RFC1 biallelic expansions present with pure ataxia? ournal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2023-331381. (In press). Green open access

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Abstract

BACKGROUND: Biallelic expansion of AAGGG in the replication factor complex subunit 1 (RFC1) was identified as a major cause of cerebellar ataxia, neuropathy (sensory ganglionopathy, or SG) and vestibular areflexia syndrome (CANVAS). We wanted to clarify if RFC1 expansions can present with pure ataxia and if such expansions could be responsible for some cases where an alternative diagnosis had been made. METHODS: We identified patients with a combination of ataxia and SG and no other cause found, patients where an alternative diagnosis had been made, and patients with pure ataxia. Testing for RFC1 expansions was done using established methodology. RESULTS: Among 54 patients with otherwise idiopathic sporadic ataxia without SG, none was found to have RFC1 expansions. Among 38 patients with cerebellar ataxia and SG in which all other causes were excluded, 71% had RFC1 expansions. Among 27 patients with cerebellar ataxia and SG diagnosed with coeliac disease or gluten sensitivity, 15% had RFC1 expansions. CONCLUSIONS: Isolated cerebellar ataxia without SG makes the diagnosis of CANVAS due to RFC1 expansions highly improbable, but CANVAS is frequently the cause of the combination of idiopathic cerebellar ataxia with SG. It is important to screen patients diagnosed with other causes of acquired ataxia and SG as a small percentage were found to have RFC1 expansions.

Type: Article
Title: Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/jnnp-2023-331381
Publisher version: http://dx.doi.org/10.1136/jnnp-2023-331381
Language: English
Additional information: © 2023 BMJ Publishing Group Ltd. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license (https://creativecommons.org/licenses/by/4.0/).
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10175734
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