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Case Definition and Classification of Leukodystrophies and Leukoencephalopathies

Overview
Journal Mol Genet Metab
Specialty Endocrinology
Date 2015 Feb 5
PMID 25649058
Citations 124
Authors
Adeline Vanderver
Morgan Prust
Davide Tonduti
Fanny Mochel
Heather M Hussey
Guy Helman
James Garbern
Florian Eichler
Pierre Labauge
Patrick Aubourg
Diana Rodriguez
Marc C Patterson
Johan L K Van Hove
Johanna Schmidt
Nicole I Wolf
Odile Boespflug-Tanguy
Raphael Schiffmann
Marjo S van der Knaap
Affiliations
Soon will be listed here.
Abstract

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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Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.

Manisha K, Fasaludeen A, Poulose P, Menon R, Thomas B, Nair S Neurol Genet. 2024; 10(5):e200190.

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