Autosomal recessive spastic ataxia 4 (SPAX4)

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

Autosomal recessive spastic ataxia 4 (SPAX4). This is caused by mutations in the MTPAP gene on chromosome 10. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the MTPAP gene on chromosome 10
  • The onset is in childhood

Clinical features

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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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