A recent study published in PubMed explores the frequency and phenotype of GAA-FGF14 disease in patients with bilateral vestibulopathy syndromes. The research highlights a case of co-occurrence with RFC1-related CANVAS, providing new insights into these rare conditions.
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
Original title: “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.”