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Case definition and classification of leukodystrophies and leukoencephalopathies
- Source :
- Molecular Genetics and Metabolism, Molecular Genetics and Metabolism, 2015, 114 (4), pp.494-500. ⟨10.1016/j.ymgme.2015.01.006⟩, Molecular Genetics and Metabolism, Elsevier, 2015, 114 (4), pp.494-500. ⟨10.1016/j.ymgme.2015.01.006⟩, Molecular Genetics and Metabolism, 114(4), 494-500. Academic Press Inc., Vanderver, A, Prust, M, Tonduti, D, Mochel, F, Hussey, H M, Helman, G, Garbern, J, Eichler, F, Labauge, P, Aubourg, P, Rodriguez, D, Patterson, M C, van Hove, J LK, Schmidt, J, Wolf, N I, Boespflug-Tanguy, O, Schiffmann, R & van der Knaap, M S 2015, ' Case definition and classification of leukodystrophies and leukoencephalopathies ', Molecular Genetics and Metabolism, vol. 114, no. 4, pp. 494-500 . https://doi.org/10.1016/j.ymgme.2015.01.006
- Publication Year :
- 2015
- Publisher :
- HAL CCSD, 2015.
-
Abstract
- International audience; 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.
- Subjects :
- Pathology
medicine.medical_specialty
Endocrinology, Diabetes and Metabolism
Modified delphi
Biology
Biochemistry
03 medical and health sciences
0302 clinical medicine
Endocrinology
SDG 3 - Good Health and Well-being
Leukoencephalopathies
Glia
Genetics
medicine
Humans
CADASIL
Psychiatry
Molecular Biology
Myelin Sheath
030304 developmental biology
0303 health sciences
Brain Diseases
GM1 Gangliosidosis
Leukodystrophy
[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism
medicine.disease
Alexander disease
3. Good health
Lysosomal Storage Diseases
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Myelin
Aicardi–Goutières syndrome
White matter abnormalities
Cerebroretinal microangiopathy with calcifications and cysts
Genetic leukoencephalopathy
Neuroglia
030217 neurology & neurosurgery
Demyelinating Diseases
Subjects
Details
- Language :
- English
- ISSN :
- 10967192 and 10967206
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics and Metabolism, Molecular Genetics and Metabolism, 2015, 114 (4), pp.494-500. ⟨10.1016/j.ymgme.2015.01.006⟩, Molecular Genetics and Metabolism, Elsevier, 2015, 114 (4), pp.494-500. ⟨10.1016/j.ymgme.2015.01.006⟩, Molecular Genetics and Metabolism, 114(4), 494-500. Academic Press Inc., Vanderver, A, Prust, M, Tonduti, D, Mochel, F, Hussey, H M, Helman, G, Garbern, J, Eichler, F, Labauge, P, Aubourg, P, Rodriguez, D, Patterson, M C, van Hove, J LK, Schmidt, J, Wolf, N I, Boespflug-Tanguy, O, Schiffmann, R & van der Knaap, M S 2015, ' Case definition and classification of leukodystrophies and leukoencephalopathies ', Molecular Genetics and Metabolism, vol. 114, no. 4, pp. 494-500 . https://doi.org/10.1016/j.ymgme.2015.01.006
- Accession number :
- edsair.doi.dedup.....2e5922150f62db48eef439e679a84e18
- Full Text :
- https://doi.org/10.1016/j.ymgme.2015.01.006⟩