Fibroblast growth factor 14 is a biologically active protein that in humans is encoded by the FGF14 gene. [5] [6] [7] The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family.

2024年1月25日 · GAA-FGF14-related ataxia is a mid to late adult-onset slowly progressive cerebellar syndrome with predominant gait involvement. Median age at onset is 60 years (range: 21-87 years).

2024年12月25日 · FGF14 (Fibroblast Growth Factor 14) is a Protein Coding gene. Diseases associated with FGF14 include Spinocerebellar Ataxia 27A and Spinocerebellar Ataxia 27B, Late-Onset. Among its related pathways are Apoptotic Pathways in …

FGF14 mutations in Ataxia and childhood onset postural tremor. a distinct SCA (spinocerebellar ataxia)phenotype (SCA27) is associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34.

Genetic ablation of the fibroblast growth factor (Fgf) 14 gene in mice or a missense mutation in Fgf14 in humans causes ataxia and cognitive deficits. These phenotypes suggest that the neuronally expressed Fgf14 gene is essential for regulating normal neuronal activity.

2025年1月4日 · Title: GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.

2022年12月14日 · In the six French Canadian patients, we identified a GAA repeat expansion deep in the first intron of FGF14, which encodes fibroblast growth factor 14. Cosegregation of the repeat expansion with...

2023年4月27日 · The FGF14 gene encodes fibroblast growth factor-14, which is highly expressed in the brain, particularly in Purkinje cells where it interacts with voltage-gated channels to regulate neuronal excitability. FGF14 also plays a role in synaptic plasticity and neurogenesis in the hippocampus (summary by Piarroux et al., 2020).

2024年1月19日 · The FGF14 repeat expansion discovery marks the fact that we are now able to genetically explain a significant portion of ataxias previously labeled as idiopathic, which is thus likely a finite concept.

2023年10月2日 · We aimed to assess the size and frequency of FGF14 expanded alleles in individuals with cerebellar ataxia as compared with controls and to characterize genetic and clinical variability.