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March 19, 2024EBioMedicineOpen Access

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

David Pellerin Felix Heindl Carlo Wilke Matt C. Danzi Andreas Traschütz Catherine Ashton Marie‐Josée Dicaire Alexanne Cuillerier Giulia Gobbo Kym M. Boycott Jens Claaßen Dan Rujescu Annette M. Hartmann Stephan Züchner Bernard Brais Michael Strupp Matthis Synofzik

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Abstract

GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA)

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Pellerin et al. (2024) studied this question.

synapsesocial.com/papers/68e734edb6db6435876ae2a9 https://doi.org/10.1016/j.ebiom.2024.105076

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1GAA-FGF14 Disease: Defining Its Frequency, Molecular Basis, and 4-aminopyridine Response in a Large Cohort of Patients with Downbeat Nystagmus (P6-3.013)2024
2GAA‐ <i>FGF14</i> Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset AtaxiaOriginal Research · 2026
3Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (<scp>SCA27B</scp>)2024 · 38 citations
4Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia2024 · 4 citations
5A cerebellar ataxia patient harboring 229 pure <scp>GAA</scp> repeat units in <i>FGF14</i> presenting with grip myotonia2024 · 1 citations

More related papers

<scp>GAA</scp>‐<scp><i>FGF14</i></scp> Expansions and <scp><i>CACNA1A</i></scp> Variants: Phenotypic Overlap and Diagnostic Implications2025
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study2024
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 CANVAS2026

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