PU¶PubMed·Journal article·Vestibular·13d agoCorticospinal conduction in RFC1-related disease: a transcranial magnetic stimulation studyNo immediate change to audiology practice; however, clinicians managing CANVAS patients should be aware that motor pathway involvement (hyperreflexia) may coexist with severe sensory neuropathy, potentially informing multidisciplinary assessment.
PU¶PubMed·Journal article·Vestibular·4w agoDNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related DiseaseIdentifying DNA repair pathway variants as potential modifiers of RFC1/CANVAS disease severity could open new avenues for genetic counselling and future therapeutic targets in vestibular-cochlear degenerative conditions.＋Save
PU¶PubMed·Journal article·Vestibular·3mo agoMotor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-AnalysisAudiologists and vestibular specialists should be aware that RFC1 disease frequently involves motor and cognitive symptoms alongside vestibular dysfunction, which may affect rehabilitation planning and referral pathways.＋Save
