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 - PubMed
3 hours ago
- #GAA-FGF14 disease
- #spinocerebellar ataxia
- #bilateral vestibulopathy
- GAA-FGF14 repeat expansions were found in 3 out of 116 bilateral vestibulopathy (BVP) patients: 2 in the idiopathic group and 1 with co-occurring RFC1 expansions.
- All GAA-FGF14 expansion carriers exhibited downbeat nystagmus, which is rare in idiopathic BVP, highlighting a distinct clinical feature.
- The study suggests that GAA-FGF14 disease can include significant bilateral vestibular deficits but remains a rare cause of primary BVP syndromes.
- Co-occurrence of GAA-FGF14 and RFC1 expansions indicates the need to consider dual diagnoses in patients with broader or unusual neurological phenotypes.