PU¶PubMed·Journal article·Vestibular·2w agoCramps as the initial presentation of CANVAS/RFC1-related disorderAudiologists and vestibular specialists evaluating patients with unexplained cramps alongside any balance or vestibular symptoms should consider CANVAS/RFC1-related disorder in the differential diagnosis.
PU¶PubMed·Journal article·Vestibular·7w agoDoes CANVAS mimic MSA-C? A prospective multimodal studyAudiologists and vestibular specialists should be aware that CANVAS (with its vestibular areflexia) can present with features—like dysautonomia and parkinsonism—that mimic MSA-C, warranting consideration of RFC1 genetic testing in ambiguous cases before labeling a patient with...＋Save
PU¶PubMed·Journal article·Vestibular·2mo 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.＋Save
PU¶PubMed·Journal article·Vestibular·2mo 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·4mo 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
PU¶PubMed·Journal article·Vestibular·33y agoRFC1- Related DisordersAudiologists should be aware that unexplained sensorineural hearing loss combined with vestibular dysfunction may point to RFC1-related disorder; refer patients with this presentation for genetic evaluation, but no change to routine audiological treatment protocols is indicated...＋Save
