Spinocerebellar ataxia type 38 (SCA38)

Evidence-based neurology checklist on spinocerebellar ataxia type 38 (sca38): Genetics This is caused by mutations in the ELOVL5 gene on chromosome 6p The gene product is involved in the synthesis of polyunsaturated fatty acids The onset is in the fourth decade Clinical features Magnetic resonance…

Genetics

  • This is caused by mutations in the ELOVL5 gene on chromosome 6p
  • The gene product is involved in the synthesis of polyunsaturated fatty acids
  • The onset is in the fourth decade

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Borroni B, Di Gregorio E, Orsi L, et al. Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38). Parkinsonism Relat Disord 2016; 28:80-86. 
  2. Di Gregorio E, Borroni B, Giorgio E, et al. ELOVL5 mutations cause spinocerebellar ataxia 38. Am J Hum Genet 2014; 95:209-217.

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