• Marios Hadjivassiliou, Riccardo Currò, Nick Beauchamp, Natalia Dominik, Richard A Grunewald, Priya Shanmugarajah, Panayiotis Zis, Nigel Hoggard, and Andrea Cortese.
• Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Trust and University of Sheffield, Sheffield, UK m.hadjivassiliou@sheffield.ac.uk.
• J. Neurol. Neurosurg. Psychiatr. 2024 Jan 11; 95 (2): 171174171-174.

BackgroundBiallelic 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.MethodsWe 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.ResultsAmong 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.ConclusionsIsolated 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.© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.

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