Evidence map›Paper›PMID 42178418›Full record

ArticleJournal of neurology2026

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.

David Pellerin, Felix Heindl, Andreas Traschütz, Pablo Iruzubieta, Marie-Josée Dicaire, Stephan Zuchner, Annette M Hartmann, Dan Rujescu, Henry Houlden, Bernard Brais and 2 more

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Article in Journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

David PellerinDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada. dxp2561@miami.edu.ORCID http://orcid.org/0000-0002-5807-995X
Felix HeindlDepartment of Neurology and German Center for Vertigo and Balance Disorders, LMU University Hospital, LMU Munich, Germany.
Andreas TraschützDivision Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Pablo IruzubietaDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
Marie-Josée DicaireDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
Stephan ZuchnerDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Annette M HartmannDepartment of Psychiatry and Psychotherapy, Comprehensive Center for Clinical Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Vienna, Austria.
Dan RujescuDepartment of Psychiatry and Psychotherapy, Comprehensive Center for Clinical Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Vienna, Austria.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
Bernard BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
Michael Strupp *Department of Neurology and German Center for Vertigo and Balance Disorders, LMU University Hospital, LMU Munich, Germany.
Matthis Synofzik *Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany. matthis.synofzik@uni-tuebingen.de.

Funding

Bundesministerium für Forschung und Technologie 01EO 1401CIHR 189963HORIZON EUROPE Framework Programme 101156595
6 · The paper itself

Abstract

objectivesIntronic FGF14 GAA repeat expansions cause spinocerebellar ataxia 27B (SCA27B) / GAA-FGF14 disease. Bilateral vestibulopathy (BVP) has been reported as a recurrent feature of this disease. Here, we aimed to determine whether GAA-FGF14 expansions represent a common cause of primary BVP syndromes.

methodsFGF14 genotyping, and in-depth neurological, vestibular and disease evolution phenotyping of 116 consecutive patients meeting the diagnostic criteria for BVP, including 92 with idiopathic BVP, 10 with biallelic RFC1 expansions, and 14 with a secondary cause.

resultsTwo patients in the idiopathic BVP group (2/92, 2.2%; 430 and 349 GAA repeats) and one in the RFC1-positive BVP group (1/10, 10%; 255 GAA repeats) carried an FGF14 (GAA) DISCUSSION: The phenotypic spectrum of GAA-FGF14 disease can include a relevant bilateral vestibular deficit (BVP); however, FGF14 GAA expansions are overall a rare cause of primary BVP syndromes. Given the possible co-occurrence of GAA-FGF14 and RFC1 expansions, dual diagnosis should be considered in patients presenting with unusual or broader phenotypes.

Indexed as

Bilateral VestibulopathyDNA Repeat ExpansionFibroblast Growth FactorsReplication Protein CAdultAgedFemaleHeterozygoteHumansMaleMiddle AgedPhenotypefibroblast growth factor 14Fibroblast Growth FactorsReplication Protein CRFC1 protein, humanBilateral vestibulopathyCANVASCerebellar ataxiaFGF14GAA-FGF14 ataxiaSCA27B

Identifiers

PMID42178418
PMCPMC13199202

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