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.
Curated publications
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)
GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.
GAA-FGF14 ataxia (SCA27B) — adult-onset autosomal dominant cerebellar ataxia
Frequently asked questions
How is a FGF14-related condition inherited?+
Autosomal dominant
What is the clinical spectrum associated with FGF14?+
Late-onset cerebellar ataxia (SCA27B), early-onset forms (SCA27A)
What is the management associated with FGF14?+
Targeted GAA-expansion testing; 4-aminopyridine benefits some patients.
How many Geno'X publications cover the FGF14 gene?+
2 publication(s) on FGF14 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).
