Case definition and classification of leukodystrophies and leukoencephalopathies

Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29.


Objective: An approved definition of the term leukodystrophy does not currently exist. The lack of a precise case definition hampers efforts to study the epidemiology and the relevance of genetic white matter disorders to public health.

Method: Thirteen experts at multiple institutions participated in iterative consensus building surveys to achieve definition and classification of disorders as leukodystrophies using a modified Delphi approach.

Results: A case definition for the leukodystrophies was achieved, and a total of 30 disorders were classified under this definition. In addition, a separate set of disorders with heritable white matter abnormalities but not meeting criteria for leukodystrophy, due to presumed primary neuronal involvement and prominent systemic manifestations, was classified as genetic leukoencephalopathies (gLE).

Interpretation: A case definition of leukodystrophies and classification of heritable white matter disorders will permit more detailed epidemiologic studies of these disorders.

Keywords: Genetic leukoencephalopathy; Glia; Leukodystrophy; Myelin.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain Diseases / classification
  • Demyelinating Diseases* / classification
  • Humans
  • Leukoencephalopathies* / classification
  • Leukoencephalopathies* / genetics
  • Lysosomal Storage Diseases* / classification
  • Myelin Sheath / physiology
  • Neuroglia / physiology