Semin Neurol. 2016 Aug;36(4):362-6. doi: 10.1055/s-0036-1585455. Epub 2016 Sep 19.


Leukodystrophies are heritable disorders primarily affecting the white matter of the central nervous system. They are clinically characterized by spasticity, optic atrophy, and ataxia. These are a heterogeneous group of disorders, including hypomyelinating disorders and demyelinating disorders due to abnormal accumulations. Although individually rare, together they are responsible for substantial disease burden. Essentially all these disorders have infantile, juvenile, and adult presentations. Understanding the genetic and biochemical bases of these disorders opens the door to therapeutic approaches.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Ataxia
  • Brain Diseases
  • Child, Preschool
  • Demyelinating Diseases
  • Hereditary Central Nervous System Demyelinating Diseases* / diagnosis
  • Hereditary Central Nervous System Demyelinating Diseases* / therapy
  • Humans
  • Infant
  • Lysosomal Storage Diseases* / diagnosis
  • Lysosomal Storage Diseases* / therapy