title: Case definition and classification of leukodystrophies and leukoencephalopathies.
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.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  A case definition of leukodystrophies and classification of heritable white matter disorders will permit more detailed epidemiologic studies of these disorders.
authors: Department 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. Electronic address: avanderv@childrensnational.org.
authors: Adeline
authors: A
authors: Vanderver
authors: Department of Neurology and Center for Genetic Medicine Research, Children's National Health System, Washington DC, USA.
authors: Morgan
authors: M
authors: Prust
authors: Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia, Italy; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors: Davide
authors: D
authors: Tonduti
authors: INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM and APHP, Department of Genetics, Groupement Hospitalier Pitié-Salpêtrière-Charles Foix, Paris, France.
authors: Fanny
authors: F
authors: Mochel
authors: Milken Institute School of Public Health, The George Washington University, Washington DC, USA.
authors: Heather M
authors: HM
authors: Hussey
authors: Department of Neurology and Center for Genetic Medicine Research, Children's National Health System, Washington DC, USA.
authors: Guy
authors: G
authors: Helman
authors: University of Rochester, Rochester, NY, USA.
authors: James
authors: J
authors: Garbern
authors: Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
authors: Florian
authors: F
authors: Eichler
authors: Department of Neurology, CHU Montpellier, Montpellier, France.
authors: Pierre
authors: P
authors: Labauge
authors: Department of Pediatric Neurology-Inserm U986, Hôpital Bicêtre, 78 avenue du Général Leclerc, 94275 Le Kremlin-Bicêtre, France.
authors: Patrick
authors: P
authors: Aubourg
authors: APHP, Service de Neuropédiatrie, Hôpital Armand Trousseau, UPMC Universite, Paris 06, Inserm U676, Paris, France.
authors: Diana
authors: D
authors: Rodriguez
authors: Departments of Neurology, Pediatrics and Medical Genetics, Mayo Clinic, Rochester, MN, USA.
authors: Marc C
authors: MC
authors: Patterson
authors: Section of Genetics, Department of Pediatrics, University of Colorado, Aurora, CO, USA.
authors: Johan L K
authors: JL
authors: Van Hove
authors: Department of Neurology and Center for Genetic Medicine Research, Children's National Health System, Washington DC, USA.
authors: Johanna
authors: J
authors: Schmidt
authors: Department of Child Neurology, VU University Medical Center and Neuroscience Campus, Amsterdam, The Netherlands.
authors: Nicole I
authors: NI
authors: Wolf
authors: Department of Pediatric Neurology and Metabolic Disorders, French Reference Center for Leukodystrophies, Robert Debré Hospital, Paris, France; Inserm UMR1141 Neuroprotect, Paris Diderot University, Sorbonne Cite, Paris, France.
authors: Odile
authors: O
authors: Boespflug-Tanguy
authors: Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX, USA.
authors: Raphael
authors: R
authors: Schiffmann
authors: Department of Child Neurology, VU University Medical Center and Neuroscience Campus, Amsterdam, The Netherlands.
authors: Marjo S
authors: MS
authors: van der Knaap
mesh_terms: D001927:Brain Diseases / Q000145:classification; D003711:Demyelinating Diseases / Q000145:classification; D006801:Humans; D056784:Leukoencephalopathies / Q000145:classification / Q000235:genetics; D016464:Lysosomal Storage Diseases / Q000145:classification; D009186:Myelin Sheath / Q000502:physiology; D009457:Neuroglia / Q000502:physiology
keywords: Genetic leukoencephalopathy; Glia; Leukodystrophy; Myelin
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