ArticleEBioMedicine2024
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Article in EBioMedicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 3 of them syntheses that pooled it.
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Who cites it
43 citing papers in PubMed, 3 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2026Pooled it
- Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family.Journal of applied genetics · 2025Pooled it
- Epidemiology of Autosomal Dominant Spinocerebellar Ataxias in Latin America: A Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2025Pooled it
- Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner).Cerebellum (London, England) · 2026Article
- GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.Clinical genetics · 2026Article
- Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS.Journal of neurology · 2026Article
- "Subthreshold" Expansions in Individuals With Otherwise-Typical Clinicoradiological Features of GAA-FGF14-Related Cerebellar Ataxia (SCA27B).Journal of movement disorders · 2026Article
- Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.Brain : a journal of neurology · 2026Article
- Sequence Variants in Small CAG Repeat Expansions of theNeurology · 2026Article
- The role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias.Brain communications · 2026Review
- Progress and challenges in sporadic late-onset cerebellar ataxias.Nature reviews. Neurology · 2025Review
- Purkinje cell development and degeneration in the spastic Han-Wistar rat model of ataxia.Research square · 2025Article
- Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experience.Journal of neurology · 2025Article
- Cerebellar Ataxia Due to FGF14 GAA Repeat Expansion: First Southeast Asian Case and Novel Neuroimaging Features.Journal of movement disorders · 2025Article
- GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Purkinje cell development and degeneration in the spastic Han-Wistar rat model of ataxia.bioRxiv : the preprint server for biology · 2025Article
- Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.Journal of neurology · 2025Article
- Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.Brain : a journal of neurology · 2025Article
- The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA).Cerebellum (London, England) · 2025Review
Corrections and comments
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Authors and funding
47 authors at 16 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10-60% of cases with unresolved cerebellar ataxia. 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.
methodsWe sized this repeat in 1876 individuals from France sampled for research purposes in this cross-sectional study: 845 index cases with cerebellar ataxia and 324 affected relatives, 475 controls, as well as 119 cases with spastic paraplegia, and 113 with familial essential tremor.
findingsA higher frequency of expanded allele carriers in index cases with ataxia was significant only above 300 GAA repeats (10.1%, n = 85) compared with controls (1.1%, n = 5) (p < 0.0001) whereas GAA
interpretationSCA27B diagnosis must consider both the phenotype and GAA expansion size. In carriers of GAA
fundingThis work was supported by the Fondation pour la Recherche Médicale, grant number 13338 to JLM, the Association Connaître les Syndrome Cérébelleux - France (to GS) and by the European Union's Horizon 2020 research and innovation program under grant agreement No 779257 ("SOLVE-RD" to GS). DP holds a Fellowship award from the Canadian Institutes of Health Research (CIHR). SK received a grant (01GM1905C) from the Federal Ministry of Education and Research, Germany, through the TreatHSP network. This work was supported by the Australian Government National Health and Medical Research Council grants (GNT2001513 and MRFF2007677) to MB and PJL.
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