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Leukodystrophy

Abstract

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NORD is very grateful to Hugo Moser, MD, deceased, former Director of the Neurogenetics Research Center at the Kennedy Krieger Institute and University Professor of Neurology and Pediatrics at Johns Hopkins University, for assistance in the preparation of this report.

Synonyms of Leukodystrophy

  • No synonyms found.

Disorder Subdivisions

  • Alexander Disease
  • Canavan Disease
  • Cerebrotendinous Xanthomatosis
  • Childhood Ataxia and Cerebral Hypomyelination (CACH)
  • Krabbe Disease
  • Megalencephaly with Subcortical Cysts
  • Metachromatic Leukodystrophy
  • Multiple Sulfatase Deficiency
  • Other Leukodystrophies
  • Pelizaeus-Merzbacher Disease
  • Refsum Disease
  • X-linked Adrenoleukodystrophy
  • Zellweger Syndrome Spectrum Disorders

General Discussion

Leukodystrophies are a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development of one of at least 10 different chemicals that make up the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.

Organizations related to Leukodystrophy

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