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Diseases

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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Cause

Newline Maker

What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)?

HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. The CSF-1 receptor triggers signaling pathways that control many important cellular processes, such as cell growth and division (proliferation) and maturation of the cell to take on defined functions (differentiation). Mutations in the CSF1R gene lead to a altered CSF-1 receptor protein which is unable to stimulate cell signaling pathways. Exactly how these gene mutations cause the signs and symptoms of HDLS is unknown.[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.


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.