Spinocerebellar ataxia type 27B (SCA27B)

Evidence-based neurology checklist on spinocerebellar ataxia type 27b (sca27b): Genetics This is caused by GAA repeats in the FGF14 gene Clinical features Characteristic features Associated features Magnetic resonance imaging (MRI) brain Pathology Treatment

Genetics

  • This is caused by GAA repeats in the FGF14 gene

Clinical features

Characteristic features

Associated features

Magnetic resonance imaging (MRI) brain

Pathology

Treatment

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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