Spinocerebellar ataxia type 27B (SCA27B)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinocerebellar ataxia type 27B (SCA27B). This is caused by GAA repeats in the FGF14 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by GAA repeats in the FGF14 gene

Clinical features

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Characteristic features

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Associated features

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Magnetic resonance imaging (MRI) brain

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Pathology

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Treatment

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References

  1. Shirai S, Mizushima K, Fujiwara K, et al. Case series: downbeat nystagmus in SCA27B. J Neurol Sci 2023; 454:120849.
  2. Abou Chaar W, Eranki AN, Stevens HA, et al. Clinical, radiological and pathological features of a large American cohort of spinocerebellar ataxia (SCA27B). Ann Neurol 2024; 96:1092-1103.
  3. Satolli S, Rossi S, Vegezzi E, et al. Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort. J Neurol 2024; 271:5478-5488.
  4. Iruzubieta P, Pellerin D, Bergareche A, et al. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. Eur J Neurol 2023; 30:3828-3833.
  5. Pellerin D, Heindl F, Wilke C, et al. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. EBioMedicine 2024; 102:105076.
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