Teaching NeuroImages: MRI guides genetics: leukoencephalopathy with brainstem and spinal cord involvement (LBSL)

Neurology. 2013 Apr 16;80(16):e176-7. doi: 10.1212/WNL.0b013e31828cf846.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aspartate-tRNA Ligase / genetics
  • Brain Stem / metabolism
  • Brain Stem / pathology*
  • Female
  • Frameshift Mutation
  • Gait Disorders, Neurologic / etiology
  • Humans
  • Lactic Acid / metabolism
  • Leukoencephalopathies / metabolism
  • Leukoencephalopathies / pathology*
  • Magnetic Resonance Imaging*
  • Magnetic Resonance Spectroscopy
  • Spinal Cord / metabolism
  • Spinal Cord / pathology*

Substances

  • Lactic Acid
  • Aspartate-tRNA Ligase
  • DARS2 protein, human