Leukodystrophies with late disease onset: an update

Curr Opin Neurol. 2010 Jun;23(3):234-41. doi: 10.1097/WCO.0b013e328338313a.


Purpose of review: Knowledge of the metabolic and genetic basis of known and previously unknown leukodystrophies is constantly increasing, opening new treatment options such as enzyme replacement or cell-based therapies. This brief review highlights some recent work, particularly emphasizing results from studies in adulthood leukodystrophies.

Recent findings: Evidence from recent studies suggests increasing importance of metabolic dysfunctions, for example, in peroxisomal lipid metabolism or energy homeostasis, influencing axonal integrity and oligodendrocyte function and leading to white matter demyelination. In addition, diagnostic and therapeutic progress in metachromatic leukodystrophy, X-linked adrenoleukodystrophy, Krabbe diseases and other rare leukodystrophies with late onset are summarized.

Summary: Better understanding of leukodystrophies in neurological routine practice is of crucial importance for differentiating between other white matter diseases such as toxic, inflammatory or vascular leukoencephalopathies. Many leukodystrophies are particularly important to recognize because specific treatments already exist or are currently under investigation. The article also provides an overview of currently known leukodystrophies in adulthood.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adrenoleukodystrophy / genetics
  • Adrenoleukodystrophy / metabolism
  • Adrenoleukodystrophy / physiopathology
  • Age of Onset
  • Animals
  • Brain Diseases, Metabolic, Inborn / genetics
  • Brain Diseases, Metabolic, Inborn / metabolism*
  • Central Nervous System / metabolism*
  • Central Nervous System / pathology
  • Central Nervous System / physiopathology*
  • Energy Metabolism / genetics
  • Hereditary Central Nervous System Demyelinating Diseases / genetics
  • Hereditary Central Nervous System Demyelinating Diseases / metabolism*
  • Hereditary Central Nervous System Demyelinating Diseases / physiopathology*
  • Humans
  • Leukodystrophy, Globoid Cell / genetics
  • Leukodystrophy, Globoid Cell / metabolism
  • Leukodystrophy, Globoid Cell / physiopathology
  • Leukodystrophy, Metachromatic / genetics
  • Leukodystrophy, Metachromatic / metabolism
  • Leukodystrophy, Metachromatic / physiopathology
  • Lipid Metabolism Disorders / genetics
  • Lipid Metabolism Disorders / metabolism
  • Nerve Fibers, Myelinated / metabolism*
  • Nerve Fibers, Myelinated / pathology