Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with <i>RFC1</i> expansions.

ABSTRACT: The finding of biallelic pathogenic pentanucleotide RFC1 expansions has extended the spectrum of disease in cerebellar ataxia, neuropathy and vestibular areflexia syndrome. It is clear that for many, a sensory neuropathy is an early feature and raises the question of how to identify which patients with this common neurophysiological presentation should be tested genetically for the condition. We identified patients with idiopathic, sensory predominant neuropathies who had attended the Neurophysiology Department of Auckland Hospital for nerve conduction studies. We undertook a systematic clinical re-evaluation to test whether any of the following hypothesized variables distinguish the presence of pathogenic RFC1 expansions. These were (i) chronic cough, (ii) ataxia, (iii) pure

SUBMITTER: Garvey A 

PROVIDER: S-EPMC12662233 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature