Spinocerebellar ataxia type 49 (SCA49)

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

Spinocerebellar ataxia type 49 (SCA49). This is caused by mutations in the SMA9DL gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the SMA9DL gene
  • It is a late-onset syndrome: it starts between 12-60 years
  • The transmission is autosomal dominant

Clinical features

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Magnetic resonance imaging (MRI) brain

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Acronym

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References

  1. Corral-Juan M, Casquero P, Giraldo-Restrepo N, et al. New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49). Brain Commun 2022; 4(2):fcac030.
  2. Coarelli G, Coutelier M, Durr A. Autosomal dominant cerebellar ataxias: new genes and progress towards treatments. Lancet Neurol 2023; 22:735-749.

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