Leukodystrophies

Research output: Contribution to journalArticle

Abstract

Leukodystrophies are heritable disorders primarily affecting the white matter of the central nervous system. They are clinically characterized by spasticity, optic atrophy, and ataxia. These are a heterogeneous group of disorders, including hypomyelinating disorders and demyelinating disorders due to abnormal accumulations. Although individually rare, together they are responsible for substantial disease burden. Essentially all these disorders have infantile, juvenile, and adult presentations. Understanding the genetic and biochemical bases of these disorders opens the door to therapeutic approaches.

Original languageEnglish (US)
Pages (from-to)362-366
Number of pages5
JournalSeminars in Neurology
Volume36
Issue number4
DOIs
StatePublished - Aug 1 2016

Keywords

  • adrenoleukodystrophy
  • Alexander's disease
  • Canavan's disease
  • Krabbe's disease
  • metachromatic
  • Pelizaeus-Merzbacher disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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