Spinocerebellar ataxia type 39 (SCA39)

Evidence-based neurology checklist on spinocerebellar ataxia type 39 (sca39): 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 Magnetic resonance imaging (MRI) brain: features Other investigations

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

Magnetic resonance imaging (MRI) brain: features

Other investigations

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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