Encyclopedia of Clinical Neuropsychology

2018 Edition
| Editors: Jeffrey S. Kreutzer, John DeLuca, Bruce Caplan


  • Douglas I. KatzEmail author
Reference work entry
DOI: https://doi.org/10.1007/978-3-319-57111-9_462




A disorder that causes progressive degeneration of the white matter of the brain, a result of abnormal development of or decomposition of the myelin sheath.

Current Knowledge

There are a number of disorders that cause leukodystrophy and each is caused by defective genes that regulate the production or metabolism of one or more components of myelin. Examples of leukodystrophies include adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe’s disease, Pelizaeus-Merzbacher disease, Canavan disease, Alexander disease, and Refsum’s disease. Additional leukodystrophy syndromes with specific genetic abnormalities have recently been described (Schiffmann and van der Knaap 2004). Leukodystrophies are usually inherited but may occur spontaneously as a result of a gene mutation. Inheritance can be autosomal dominant, recessive, or X-linked, depending on the specific disorder. Onset is usually in infancy or childhood and the leukodystrophies typically...

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References and Readings

  1. Phelan, J. A., Lowe, L. H., & Glasier, C. M. (2008). Pediatric neurodegenerative white matter processes: Leukodystrophies and beyond. Pediatric Radiology, 38(7), 729–749.PubMedCrossRefGoogle Scholar
  2. Rauschka, H., Colsch, B., Baumann, N., Wevers, R., Schmidbauer, M., Krammer, M., et al. (2006). Late-onset metachromatic leukodystrophy: Genotype strongly influences phenotype. Neurology, 67(5), 859–863.PubMedCrossRefGoogle Scholar
  3. Schiffmann, R., & van der Knaap, M. S. (2004). The latest on leukodystrophies. Current Opinion in Neurology, 17(2), 187–192.PubMedCrossRefPubMedCentralGoogle Scholar
  4. Sedel, F., Tourbah, A., Fontaine, B., Lubetzki, C., Baumann, N., Saudubray, J. M., et al. (2008). Leukoencephalopathies associated with inborn errors of metabolism in adults. Journal of Inherited Metabolic Disease, 31(3), 295–307.PubMedCrossRefPubMedCentralGoogle Scholar
  5. Vanderver, A. (2005). Tools for diagnosis of leukodystrophies and other disorders presenting with white matter disease. Current Neurology and Neuroscience Reports, 5(2), 110–118.PubMedCrossRefPubMedCentralGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of NeurologyBoston University School of MedicineBraintreeUSA