FGF14

Publications

Amado A et al. Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion. Neuropediatrics. 2017;48:131.

Ando M  et al.  Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan. Ann Clin Transl Neurol. 2023. Epub ahead of print.

Ashton C et al. Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients. Brain Commun. 2023;5:fcad239.

Bonnet C et al. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B. Scientific reports. 2023;13:9737.

Borsche M et al. Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B. J neuro; 2023. 10.1007/s00415-023-12050-0. Advance online publication. https://doi.org/10.1007/s00415-023-12050-0

Bosch MK et al. Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance. J Neurosci. 2015;35:6752-69.

Brais B et al. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. Reply. N Engl J Med. 2023;388:e70.

Brusse E  et al.  Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. Mov Disord. 2006;21:396-401.

Choquet K et al. A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. Neurogenetics. 2015;16:233-6.

Coebergh JA et al. A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene. Eur J Paediatr Neurol. 2014;18:413-5.

Di Re J et al. Intracellular Fibroblast Growth Factor 14: Emerging Risk Factor for Brain Disorders. Frontiers in cellular neuroscience. 2017;11:103.

Groth CL et al. Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. Tremor Other Hyperkinet Mov (N Y). 2018;8:534.

Hengel H  et al. As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort. Mov Disord. 2023;38:1557-8.

Iruzubieta P et al. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. Eur J Neurol. 2023.

Lou JY et al. Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channels. J Physiol. 2005;569:179-93.

Miura S  et al. Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14. Eur J Med Genet. 2019;62:172-6.

Novis LE et al. Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia. Neurol Genet. 2023;9:e200094.

Pellerin D et al.  Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. N Engl J Med. 2023a;388:128-41.

Pellerin D et al.  Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family". Mov Disord. 2023b;38:1575-7.

Pellerin D et al. Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. J Neurol Neurosurg Psychiatry. 2023c:jnnp-2023-331490.

Pellerin D et al. Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response. medRxiv : the preprint server for health sciences, 2023.07.30.23293380. https://doi.org/10.1101/2023.07.30.23293380

Pellerin D et al. A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus. bioRxiv : the preprint server for biology, 2023.05.11.540430. https://doi.org/10.1101/2023.05.11.540430

Piarroux J  et al.  FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9. Ann Clin Transl Neurol. 2020;7:565-72.

Rafehi H et al. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14. American journal of human genetics. 2023;110:1018.

Schesny M et al. Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene. Cerebellum. 2019;18:649-53.

Seemann J et al.  4-Aminopyridine improves real-life gait performance in SCA27B on a single-subject level: a prospective n-of-1 treatment experience. J Neurol. 2023;270:5629-34.

van Swieten JC et al.  A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. American journal of human genetics. 2003;72:191-9.

Wilke C et al. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain. 2023.

Wirth T et al.  Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B). Mov Disord. 2023.

Xiao M et al. FGF14 localization and organization of the axon initial segment. Molecular and cellular neurosciences 2013;56:393-403.

Yan H et al. FGF14 modulates resurgent sodium current in mouse cerebellar Purkinje neurons. Elife 2014;3:e04193.

Zeng YH et al. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. N Engl J Med. 2023;388:e70.