ArticleAmerican journal of human genetics2023
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Erratum issuedOpen access · greenAbstract read
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Article in American journal of human genetics, 2023. 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 104 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
104citing papers in PubMed, 1 pooled it
16.1field-weighted citation impact, top 1% of its field
What it found
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Who cites it
104 citing papers in PubMed, 1 synthesis or guideline pooled it, 159 citations in OpenAlex.
- Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family.Journal of applied genetics · 2025Pooled it
- Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions inNeurology. Genetics · 2026Article
- Association of Bilateral Vestibulopathy With theNeurology. Genetics · 2026Article
- Unified long-read panel for Parkinson's and repeat expansion disorders.NPJ Parkinson's disease · 2026Article
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Cerebellar cognitive affective syndrome (CCAS) and [18F]-FDG PET findings in spinocerebellar ataxia type SCA27B.Journal of neurology · 2026Article
- Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.Journal of neuromuscular diseases · 2026Review
- Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.Cerebellum (London, England) · 2026Article
- Phenotypic spectrum of FGF14-related late-onset ataxia: predominant tremor and cognitive decline as key features of SCA27A.Journal of neurology · 2026Article
- Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study.Cerebellum (London, England) · 2026Article
- Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.Brain : a journal of neurology · 2026Article
- Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion.Neurologia · 2026Article
- RFC1-related disorders: A case series of 4-aminopyridine and acetyl-DL-leucine treatment.Cerebellum (London, England) · 2026Observational
- 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
- Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.International journal of molecular sciences · 2026Review
- The Status and Future Directions of Treatments for Polyglutamine Spinocerebellar Ataxia: A Bibliometric and Visual Analysis.Current neuropharmacology · 2026Review
- Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026Review
- Treatment of primary adult-onset neurodegenerative cerebellar ataxias.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Review
- Genetic testing for SCA27B in Korean multiple system atrophy.Brain : a journal of neurology · 2025Article
44 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
31 authors at 17 institutions in 3 countries.
Haloom RafehiPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia.
Justin ReadBruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.
David J SzmulewiczCerebellar Ataxia Clinic, Eye and Ear Hospital, Melbourne, VIC, Australia; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.
Kayli C DaviesBruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.
Penny SnellBruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Liam G FearnleyPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Liam ScottPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia.
Mirja ThomsenInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Greta GilliesBruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Kate PopeBruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Mark F BennettPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
Jacob E MunroPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia.
Kathie J NgoDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA, USA.
Luke ChenAlfred Hospital, Department of Neurology, Melbourne, VIC, Australia.
Mathew J WallisClinical Genetics Service, Austin Health, Melbourne, VIC, Australia; Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.
Ernest G ButlerPeninsula Health, Melbourne, VIC, Australia.
Kishore R KumarFaculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia; Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord, NSW, Australia; Garvan Institute of Medical Research, Sydney, NSW, Australia.
Kathy Hc WuSchool of Medicine, University of New South Wales, Sydney, NSW, Australia; Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; School of Medicine, University of Notre Dame, Sydney, NSW, Australia.
Susan E TomlinsonSchool of Medicine, University of Notre Dame, Sydney, NSW, Australia; Department of Neurology, St Vincent's Hospital, Darlinghurst, NSW, Australia.
Stephen TischSchool of Medicine, University of New South Wales, Sydney, NSW, Australia; Department of Neurology, St Vincent's Hospital, Darlinghurst, NSW, Australia.
Abhishek MalhotraDepartment of Neuroscience, University Hospital Geelong, Geelong, VIC, Australia.
Matthew Lee-ArcherLaunceston General Hospital, Tasmanian Health Service, Launceston, TAS, Australia.
Egor DolzhenkoIllumina Inc, San Diego, CA, USA.
Michael A EberleIllumina Inc, San Diego, CA, USA.
Leslie J RobertsDepartment of Neurology and Neurological Research, St. Vincent's Hospital, Melbourne, VIC, Australia.
Brent L FogelDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA, USA; Departments of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA, USA.
Norbert BrüggemannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Germany.
Katja LohmannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Martin B DelatyckiBruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
Melanie BahloPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia. Electronic address: bahlo@wehi.edu.au.
Paul J LockhartBruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia. Electronic address: paul.lockhart@mcri.edu.au.
The University of Melbourne · AURoyal Children's Hospital · AUMurdoch Children's Research Institute · AUIllumina (United States) · USThe University of Sydney · AUUniversity of California, Los Angeles · USUniversity of Lübeck · DEGeelong Hospital · AULaunceston General Hospital · AUPeninsula Health · AUSt Vincent's Hospital Melbourne · AUSt Vincent's Hospital Sydney · AUThe Alfred Hospital · AUUniversity Hospital Schleswig-Holstein · DEUniversity of Tasmania · AUUNSW Sydney · AUWalter and Eliza Hall Institute of Medical Research · AU
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) repeat expansion in fibroblast growth factor 14 (FGF14). Genetic analysis of 95 Australian individuals with adult-onset ataxia identified four (4.2%) with (GAA)
Indexed as
Cerebellar AtaxiaFibroblast Growth FactorsFriedreich AtaxiaTrinucleotide Repeat ExpansionAdultAtaxiaAustraliaHumansfibroblast growth factor 14Fibroblast Growth Factorsataxiabilateral vestibulopathycerebellar ataxiarepeat expansionsshort tandem repeatswhole-genome sequencing
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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.