Autosomal recessive spastic ataxia 5 (SPAX5)

Evidence-based neurology checklist on autosomal recessive spastic ataxia 5 (spax5): Genetics This is caused by mutations in the AFG3L2 gene It is an early onset disorder Clinical features Magnetic resonance imaging (MRI) Synonym

Genetics

  • This is caused by mutations in the AFG3L2 gene
  • It is an early onset disorder

Clinical features

Magnetic resonance imaging (MRI)

Synonym

References

  1. de Bot ST, Willemsen MA, Vermeer S, Kremer HP, van de Warrenburg BP. Reviewing the genetic causes of spastic-ataxias. Neurology 2012; 79:1507-1514. 

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