← Gene index
FGF14
HGNC ↗2 article(s) in the watch · Constitutional genetics
FGF14 modulates neuronal excitability. An intronic GAA repeat expansion causes spinocerebellar ataxia type 27B, a common late-onset ataxia; point variants cause SCA27A.
InheritanceAutosomal dominant
Clinical spectrumLate-onset cerebellar ataxia (SCA27B), early-onset forms (SCA27A)
ManagementTargeted GAA-expansion testing; 4-aminopyridine benefits some patients.
Curated publications
7/10
Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion
SCA27B — cerebellar ataxia with downbeat nystagmus (A-DBN)
Gén.6 May 2026
6/10GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.
GAA-FGF14 ataxia (SCA27B) — adult-onset autosomal dominant cerebellar ataxia
Gén.3 June 2026