Ask about this productRelated genes to: FGF14 Blocking Peptide
- Gene:
- FGF14 NIH gene
- Name:
- fibroblast growth factor 14
- Previous symbol:
- -
- Synonyms:
- FHF4, SCA27
- Chromosome:
- 13q33.1
- Locus Type:
- gene with protein product
- Date approved:
- 1996-12-18
- Date modifiied:
- 2016-10-05
Related products to: FGF14 Blocking Peptide
Related articles to: FGF14 Blocking Peptide
- GAA-FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult-onset autosomal dominant cerebellar ataxia (ADCA). In this study, we assessed the frequency of GAA-FGF14 ataxia in a predominantly sporadic German cohort of 107 genetically unresolved index patients using long-range PCR and nanopore sequencing. Somatic mosaicism of GAA repeat length was assessed using a custom bioinformatics pipeline based on a modified cyclic Smith-Waterman algorithm. This approach provided streamlined detection and enabled precise genotyping. Among sporadic cases, 10% had a pathogenic and 6% an intermediate repeat expansion. Across the entire cohort, 13% carried a pathogenic and 5% an intermediate repeat expansion. Diagnostic yield varied substantially by clinical presentation: 50% in cases with typical GAA-FGF14-ataxia features, 13% in patients with compatible but less characteristic features and 5% in atypical presentations. In conclusion, this study further corroborates existing evidence that GAA-FGF14 ataxia is a frequent cause of both sporadic and familial cerebellar ataxia. Given its high diagnostic yield and the limited detectability by standard short-read genome sequencing, targeted testing should be more widely implemented. - Source: PubMed
Publication date: 2026/05/28
Kraus Eva-MariaLenz JohannesPloettner PaulineDuffek PatriciaRumpf Jost-JulianJamra Rami AbouWiedenhoeft JohnPopp Denny - Intronic FGF14 GAA repeat expansions cause spinocerebellar ataxia 27B (SCA27B) / GAA-FGF14 disease. Bilateral vestibulopathy (BVP) has been reported as a recurrent feature of this disease. Here, we aimed to determine whether GAA-FGF14 expansions represent a common cause of primary BVP syndromes. - Source: PubMed
Publication date: 2026/05/25
Pellerin DavidHeindl FelixTraschütz AndreasIruzubieta PabloDicaire Marie-JoséeZuchner StephanHartmann Annette MRujescu DanHoulden HenryBrais BernardStrupp MichaelSynofzik Matthis - A-isoforms of cytosolic growth factor homologous factors (FGF11-14) mediate long-term inactivation (LTI) of voltage-dependent sodium (NaV) channels. LTI is a rapid onset process that is competitive with the fast inactivation (IF) intrinsic to NaV channels, with little or no interconversion between inactivated states. Since recovery from LTI is orders of magnitude slower than recovery from IF, repetitive depolarizations lead to use-dependent accumulation of NaV channels in slow recovery states, thereby limiting NaV availability during trains of action potentials. Of the two or more N-terminal splice variants of the various FGF homologues, LTI specifically arises only from the A-isoform of each FGF subunit. Although there is substantial homology among the N termini of the four FGF-A paralogs, to what extent LTI generated by the different FGF-A homologues may differ has not been directly addressed. Here, using heterologous expression in HEK293T cells, we evaluate the kinetics of onset and recovery from LTI mediated by hFGF11-14A in association with WT hNaV1.2. We also use NaV channels with fast inactivation removed (IQM) to measure rates of LTI-mediated inactivation and recovery in the absence of intrinsic fast inactivation. Among the four FGF-A homologues, we identify two features that can differ. First, different FGF-A's differ in the rate of onset into LTI. Second, the rate of recovery from inactivation, whether measured with WT NaV1.2 or with NaV1.2_IQM, differs among FGF-A's. The functional differences among FGF-A homologues differentially sculpt the time course and extent of use-dependent accumulation of NaV1.2 channels into LTI. This, in turn, would differentially impact on NaV availability during repetitive firing. - Source: PubMed
Publication date: 2026/05/22
Lorenzo-Ceballos YenisleidyMartinez-Espinosa Pedro LXia Xiao-MingLingle Christopher J - Spinocerebellar Ataxia 27B (SCA27B) is a recently described autosomal dominant ataxia caused by uniallelic GAA intronic expansions at FGF14. It is a frequent SCA subtype in North American/European populations, accounting for > 20% of all SCAs in some series. Despite that, its frequency as well as phenotype in Latin America remains to be established. - Source: PubMed
Publication date: 2026/05/21
de Jesus Araujo Dias AmandaSilveira CynthiaVinagre Adriana MendesBonadia Luciana CardosoSantos Nadson Bruno SerraRezende Thiago Junqueira RCorazza Luiza AlvesPedroso José LuizBarsottini Orlando Graziani Pde Lima Fabricio DinizFrança Junior Marcondes C - - Source: PubMed
Publication date: 2026/05/15
Matovu Daniel