Department of Pathology and Laboratory Medicine, University of Rochester Medicine Center, NY 14642, USA.
The clinicopathologic profiles of the major leukodystrophies (adreno-leukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy or Krabbe's disease, Pelizaeus-Merzbacher disease, and spongy degeneration of infancy or Canavan's disease) are reviewed. Particular attention is paid to distinctive imaging characteristics, molecular advances, pathogeneses, and potential therapies.