Autosomal recessive spastic ataxia 2 (SPAX2)

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

Autosomal recessive spastic ataxia 2 (SPAX2). This is caused by mutations in chromosome 17p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in chromosome 17p

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. 
  2. Bouslam N, Bouhouche A, Benomar A, et al. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet 2007; 121:413-420.

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