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Updated: Apr 17, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Case definition and classification of leukodystrophies and leukoencephalopathies
Adeline Vanderver1, Morgan Prust2, Davide Tonduti3
1Department of Neurology and Center for Genetic Medicine Research, Children's National Health System, Washington DC, USA; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington DC, USA.
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.
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