Spinocerebellar ataxia type 38 (SCA38)

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

Spinocerebellar ataxia type 38 (SCA38). This is caused by mutations in the ELOVL5 gene on chromosome 6p. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain

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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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