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PubMed·Journal article·Vestibular·6d ago

Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS

Audiologists 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...

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