RFC1 and neuropathy: Widespread neurodegeneration has been demonstrated with the presence of cerebral and cerebellar atrophy on MRI, increased CSF neurofilament light chain levels and total tau.8 Common symptoms include chronic cough, dysarthria, dysphagia, falls, cerebellar and vestibular dysfunction.2 Presence of these symptoms may be useful to identify patients who are more likely to have RFC1-mediated neuropathy.