Slow-progressive ataxia with a methionine-to-arginine point mutation in codon 232 in the prion protein gene (PRNP)

Clin Neurol Neurosurg. 2011 Oct;113(8):696-8. doi: 10.1016/j.clineuro.2011.04.009. Epub 2011 May 28.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Arginine*
  • Cerebellar Ataxia / genetics*
  • Cerebral Angiography
  • Creutzfeldt-Jakob Syndrome / genetics
  • Electroencephalography
  • Female
  • Humans
  • Magnetic Resonance Angiography
  • Magnetic Resonance Imaging
  • Methionine*
  • Middle Aged
  • Point Mutation*
  • Prion Proteins
  • Prions / genetics*
  • Tomography, Emission-Computed, Single-Photon
  • Vision Disorders / etiology

Substances

  • PRNP protein, human
  • Prion Proteins
  • Prions
  • Arginine
  • Methionine