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June 1, 2025European Journal of NeurologyOpen Access

Video‐Oculography as a Key Diagnostic Tool for SCA27B : A Real‐Life Experience

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Authors

SCSarah CouletteFondation de RothschildALAugustin LeclerCentre National de la Recherche ScientifiqueCCChloé Le CossecFondation Ophtalmologique Adolphe de Rothschild

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Implication

Retrospective study demonstrates high prevalence of downbeat nystagmus via video-oculography in late-onset ataxia carriers, highlighting its utility for targeted genetic testing and treatment.

Key Points

  • To evaluate the diagnostic utility of video-oculography in identifying spinocerebellar ataxia type 27B among patients with idiopathic late-onset cerebellar ataxia and assess treatment response to 4-aminopyridine.
  • Retrospective cohort analysis of 34 patients with idiopathic late-onset cerebellar ataxia referred to Fondation Rothschild Hospital (Paris, France) between February 2023 and January 2024.
  • Patients underwent clinical evaluation, brain MRI, video-oculography, and genetic testing for FGF14-GAA repeat expansions (carriers defined as ≥200 repeats).
  • A subset of symptomatic carriers received 4-aminopyridine and underwent follow-up at baseline, 2 months, and 8 months using the Scale for the Assessment and Rating of Ataxia (SARA) and video-oculography.
  • Twelve of 34 patients (35%) were identified as FGF14-GAA repeat expansion carriers.
  • Downbeat nystagmus occurred significantly more frequently in carriers than in non-carriers (92% vs. 33%, p = 0.003), as did gaze-evoked nystagmus (75% vs. 19%, p = 0.005), whereas MRI findings did not distinguish between the two groups.
  • All 9 treated carriers reported improved balance, with SARA scores decreasing from a median of 5.5 to 3 at 2 months (p = 0.015) and therapeutic benefits sustained at 8 months.

Cite This Study

Coulette et al. (2025) studied this question.

synapsesocial.com/papers/6aa9f9635e1c2e91a8fbbf40https://doi.org/10.1111/ene.70228
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 14-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 62016 · 108 citations
  2. 2GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort2024 · 69 citations
  3. 3Complete nanopore repeat sequencing of SCA27B (GAA-FGF14ataxia) in Japanese2024 · 16 citations
  4. 4Downbeat nystagmus: a clinical and pathophysiological review2024 · 17 citations