Hereditary diffuse leukoencephalopathy with spheroids
Other Names for this Disease
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- Leukoencephalopathy, diffuse hereditary, with spheroids
- Adult-onset leukodystrophy with neuroaxonal spheroids
- Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
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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.
Last updated: 3/27/2013
- 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.