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Genetic and Rare Diseases Information Center (GARD)

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Hereditary diffuse leukoencephalopathy with spheroids


Other Names for this Disease

  • Adult-onset leukodystrophy with neuroaxonal spheroids
  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
  • Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
  • HDLS
  • Hereditary diffuse leukoencephalopathy with axonal spheroids
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Overview

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroids. Damage to myelin and axons is thought to contribute to many of the neurological signs and symptoms seen in people with this condition, including the personality changes, loss of memory, changes in motor skills and dementia. HDLS is caused by mutations in the CSF1R gene. It is inherited in an autosomal dominant pattern.[1]
Last updated: 3/27/2013

References

  1. Hereditary diffuse leukoencephalopathy with spheroids. Genetics Home Reference (GHR). December 2012; http://ghr.nlm.nih.gov/condition/hereditary-diffuse-leukoencephalopathy-with-spheroids. Accessed 3/27/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hereditary diffuse leukoencephalopathy with spheroids. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
Other Names for this Disease
  • Adult-onset leukodystrophy with neuroaxonal spheroids
  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
  • Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
  • HDLS
  • Hereditary diffuse leukoencephalopathy with axonal spheroids
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.