Novel Clinical Insights From a Swedish <scp> <i>RFC1</i> </scp> Spectrum Disorder Cohort

Our findings expand the RFC1 spectrum, suggesting a founder effect in Sweden and extensive subclinical involvement. RFC1-spectrum disorder should also be considered in patients with cerebellar and vestibular dysfunction but lacking neuropathy. A discordant VOR pattern may represent an incipient sign of RFC1-spectrum disorder; interestingly, otolith pathways seem to be generally spared.