Leukodystrophies: Clinical and genetic aspects

Gilles Lyon, Aviva Fattal-Valevski, Edwin H. Kolodny*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

41 Scopus citations


The leukodystrophies comprise an ever-expanding group of rare central nervous system disorders with defined clinical, pathological, and genetic characteristics. The broader term, leukoencephalopathy, is applied to all brain white matter diseases, whether their molecular cause is known. Magnetic resonance imaging has helped to elucidate new forms of leukodystrophy as well as to permit longitudinal studies of disease progression. The white matter abnormality may appear similar in different forms of leukodystrophy so that in most cases, further studies such as magnetic resonance spectroscopy, tissue biopsies, enzyme studies, and molecular DNA analyses are needed to pinpoint the specific diagnosis. The primary inherited leukoencephalopathies include dysmyelinating, hypomyelinative, and vacuolating forms. Metabolic and vascular causes account for most of the secondary forms, but other inherited syndromes are recognized that have their onset in childhood or adult life and are characterized by distinctive clinical and neuropathologic features. This review discusses some of the mechanisms that have been proposed to explain deficiencies of myelin and the molecular genetic bases underlying these disorders.

Original languageEnglish
Pages (from-to)219-242
Number of pages24
JournalTopics in Magnetic Resonance Imaging
Issue number4
StatePublished - Aug 2006


  • Genetics
  • Leukodystrophy
  • MRI
  • Neuroimaging


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