ArticleAmerican journal of human genetics2003
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 125 papers.
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Who cites it
125 citing papers in PubMed, 292 citations in OpenAlex.
- Phenotypic spectrum of FGF14-related late-onset ataxia: predominant tremor and cognitive decline as key features of SCA27A.Journal of neurology · 2026Article
- In Vivo Expression of an SCA27A-LinkedThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Article
- Genetic testing for SCA27B in Korean multiple system atrophy.Brain : a journal of neurology · 2025Article
- Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions.Cerebellum (London, England) · 2025Article
- The NaV1.5 auxiliary subunit FGF13 modulates channels by regulating membrane cholesterol independent of channel binding.The Journal of clinical investigation · 2025Article
- Loss of intracellular FGF14 (iFGF14) increases excitability of mature hippocampal pyramidal neurons.The Journal of general physiology · 2025Article
- Deletion of Fgf14 confers resilience to basal and stress-induced depressive-like behavior and reduces anxiety in mice.Translational psychiatry · 2025Article
- Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.Current neurology and neuroscience reports · 2025Review
- TheBrain communications · 2025Article
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.Nature communications · 2024Article
- RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.Movement disorders clinical practice · 2024Article
- The intracellular interplay between galectin-1 and FGF12 in the assembly of ribosome biogenesis complex.Cell communication and signaling : CCS · 2024Article
- Brain 18F-FDG PET findings and sequential vestibular testing in SCA27B: a case report.Journal of neurology · 2024Article
- Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.Clinical and translational medicine · 2024Review
- Tremor in Spinocerebellar Ataxia: A Scoping Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.Annals of clinical and translational neurology · 2024Article
- Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.European journal of human genetics : EJHG · 2023Article
- Ataxias: Hereditary, Acquired, and Reversible Etiologies.Seminars in neurology · 2023Article
- Deep IntronicThe New England journal of medicine · 2023Article
65 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders for which >/=14 different genetic loci have been identified. In some SCA types, expanded tri- or pentanucleotide repeats have been identified, and the length of these expansions correlates with the age at onset and with the severity of the clinical phenotype. In several other SCA types, no genetic defect has yet been identified. We describe a large, three-generation family with early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia, not associated with any of the known SCA loci, and a mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34. Our observations are in accordance with the occurrence of ataxia and paroxysmal dyskinesia in Fgf14-knockout mice. As indicated by protein modeling, the amino acid change from phenylalanine to serine at position 145 is predicted to reduce the stability of the protein. The present FGF14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.