AMACR mutations cause late-onset autosomal recessive cerebellar ataxia

Neurology. 2011 May 17;76(20):1768-70. doi: 10.1212/WNL.0b013e31821a4484.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Epilepsy, Tonic-Clonic / etiology
  • Fatty Acids / metabolism
  • Gait Disorders, Neurologic / etiology
  • Genes, Recessive
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Memory Disorders / etiology
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Mutation
  • Neurologic Examination
  • Neuropsychological Tests
  • Racemases and Epimerases / deficiency
  • Racemases and Epimerases / genetics*
  • Speech Disorders / etiology
  • Spinocerebellar Degenerations / genetics*
  • Spinocerebellar Degenerations / therapy

Substances

  • Fatty Acids
  • Racemases and Epimerases
  • alpha-methylacyl-CoA racemase