Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene

J Neurol. 2009 Sep;256(9):1555-7. doi: 10.1007/s00415-009-5133-3. Epub 2009 Apr 18.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Apraxias / diagnosis
  • Apraxias / genetics*
  • Apraxias / pathology
  • Ataxia / diagnosis
  • Ataxia / genetics*
  • Ataxia / pathology
  • Brain / pathology
  • DNA Helicases
  • Diagnosis, Differential
  • Disease Progression
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Multifunctional Enzymes
  • Mutation
  • Ocular Motility Disorders / diagnosis
  • Ocular Motility Disorders / genetics*
  • Ocular Motility Disorders / pathology
  • RNA Helicases / genetics*

Substances

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