Spinocerebellar ataxia type 39 (SCA39)

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

Spinocerebellar ataxia type 39 (SCA39). This is caused by mutations in chromosome 11q. It is a genomic duplication. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in chromosome 11q
  • It is a genomic duplication
  • The onset age is in the mid-40’s

Clinical features

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Magnetic resonance imaging (MRI) brain: features

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Other investigations

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References

  1. Johnson JO, Stevanin G, van de Leemput J, et al. A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 2015; 30:262-266.

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