A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2

Acta Neurol Belg. 2016 Sep;116(3):405-7. doi: 10.1007/s13760-015-0569-y. Epub 2016 Jan 25.
No abstract available

Keywords: Ataxia with oculomotor apraxia type 2; Early-onset ataxia; Novel senataxin mutation.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA Helicases
  • Female
  • Humans
  • Multifunctional Enzymes
  • Multiplex Polymerase Chain Reaction
  • Mutation, Missense
  • RNA Helicases / genetics*
  • Spinocerebellar Ataxias / congenital*
  • Spinocerebellar Ataxias / genetics

Substances

  • Multifunctional Enzymes
  • SETX protein, human
  • DNA Helicases
  • RNA Helicases

Supplementary concepts

  • Spinocerebellar ataxia, autosomal recessive 1