PU¶PubMed·Journal article·Research (general)·5w agoCharacteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions in FGF14Clinicians evaluating adults with unexplained late-onset cerebellar ataxia should be aware of SCA27B (GAA-FGF14) as a newly recognized genetic cause, but specific practice protocols await larger evidence bases; no actionable change to routine audiology practice at this time.
PU¶PubMed·Journal article·Vestibular·4mo agoFrequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVASAudiologists and vestibular clinicians should be aware that GAA-FGF14 repeat expansions can underlie bilateral vestibulopathy, and rare co-occurrence with RFC1-CANVAS is possible, but genetic testing protocols are not yet standardised — no immediate practice change is warranted...＋Save
