A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

Ann Neurol. 2003 Feb;53(2):252-8. doi: 10.1002/ana.10456.


We identified eight patients with a distinct magnetic resonance imaging pattern of inhomogeneous cerebral white matter abnormalities and selective involvement of brainstem and spinal tracts. Proton magnetic resonance imaging showed increased lactate in the abnormal white matter. Clinically, the patients had slowly progressive pyramidal, cerebellar, and dorsal column dysfunction. The uniform, highly characteristic magnetic resonance imaging pattern and the similarities in clinical and magnetic resonance spectroscopy findings provide evidence for a new disease entity. Autosomal recessive inheritance is likely.

MeSH terms

  • Adolescent
  • Adult
  • Brain Diseases / classification
  • Brain Diseases / pathology*
  • Brain Stem / chemistry
  • Brain Stem / pathology*
  • Child
  • Female
  • Humans
  • Lactic Acid / analysis*
  • Magnetic Resonance Imaging
  • Male
  • Nerve Fibers / pathology
  • Spinal Cord / chemistry
  • Spinal Cord / pathology*


  • Lactic Acid