Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy

Ann Neurol. 1994 Oct;36(4):595-608. doi: 10.1002/ana.410360408.


Multislice proton magnetic resonance spectroscopic imaging permits metabolic analysis of brain tissue in vivo by data acquisition in four oblique axial slices, each 15-mm thick and divided into 0.8-ml single-volume elements. We applied this technique to the systematic study of 25 patients with adrenoleukodystrophy: 3 with the severe childhood or adult cerebral form of the disease, 5 with adrenomyeloneuropathy, 12 with no demonstrable neurological involvement, and 5 women heterozygous for adrenoleukodystrophy who had some degree of neurological disability. Abnormalities on magnetic resonance spectroscopic imaging included a reduction in N-acetyl aspartate, an increase in choline-containing compounds, and at times, an increase in lactate. Five patients showed abnormalities in the presence of normal-appearing magnetic resonance images, and in 8 other patients the alterations on spectroscopic images were more severe than those demonstrable by magnetic resonance imaging. Correlation with clinical course suggests that an increase in the choline-containing compounds is associated with an active demyelinative process, whereas such compounds are not elevated in lesions that are stable. We conclude that magnetic resonance spectroscopic imaging is a more sensitive indicator of early neurological involvement than is magnetic resonance imaging, and that the character of abnormalities detected by the former technique may serve as a gauge of the degree of activity of the demyelinating process and as a guide to the selection and evaluation of therapeutic approaches.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adrenoleukodystrophy / genetics
  • Adrenoleukodystrophy / metabolism*
  • Adrenoleukodystrophy / pathology
  • Adult
  • Aged
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / metabolism
  • Brain Diseases / metabolism*
  • Brain Diseases / pathology
  • Child
  • Child, Preschool
  • Choline / metabolism
  • Creatine / metabolism
  • Female
  • Genetic Linkage
  • Humans
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy*
  • Male
  • Middle Aged
  • Phenotype
  • Phosphocreatine / metabolism
  • X Chromosome


  • Phosphocreatine
  • Aspartic Acid
  • N-acetylaspartate
  • Creatine
  • Choline