Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion
Eight patients with a newly recognized form of ataxia sustained functional gains over 3.5 years on aminopyridines, suggesting real disease modification potential.
This case series (N=8) of patients with SCA27B due to FGF14 GAA expansion demonstrates sustained functional improvement (65% CGI-p patient-reported disability improvement) and disease stabilization over a median 43-month aminopyridine treatment course, with excellent tolerability. Given recent recognition of this newly characterized repeat expansion ataxia, these long-term data support aminopyridines as a potentially disease-modifying treatment for SCA27B.
What the study was
- Study design
- Retrospective cohort / compassionate use
- Population
- Adults with FGF14 GAA expansion-associated ataxia with downbeat nystagmus (SCA27B)
- Sample size
- 8
- Category
- Treatment Innovation
- Maturity
- Exploratory
- Journal
- Neurologia (English Edition)
Why it surfaced
Long-term follow-up data (43 months) on aminopyridines in newly recognized SCA27B; N=8 small but meaningful for a rare disease; near-term implementable repurposed drug.
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