TY - JOUR
T1 - Case definition and classification of leukodystrophies and leukoencephalopathies
AU - behalf of the GLIA Consortium
AU - Vanderver, Adeline
AU - Prust, Morgan
AU - Tonduti, Davide
AU - Mochel, Fanny
AU - Hussey, Heather M.
AU - Helman, Guy
AU - Garbern, James
AU - Eichler, Florian
AU - Labauge, Pierre
AU - Aubourg, Patrick
AU - Rodriguez, Diana
AU - Patterson, Marc C.
AU - Van Hove, Johan L.K.
AU - Schmidt, Johanna
AU - Wolf, Nicole I.
AU - Boespflug-Tanguy, Odile
AU - Schiffmann, Raphael
AU - van der Knaap, Marjo S.
PY - 2015/4/1
Y1 - 2015/4/1
N2 - 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.
AB - 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.
KW - Genetic leukoencephalopathy
KW - Glia
KW - Leukodystrophy
KW - Myelin
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U2 - 10.1016/j.ymgme.2015.01.006
DO - 10.1016/j.ymgme.2015.01.006
M3 - Review article
C2 - 25649058
AN - SCOPUS:84926245563
VL - 114
SP - 494
EP - 500
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 4
ER -