Diffuse leukoencephalopathy with spheroids: biopsy findings and a novel mutation

Clin Neurol Neurosurg. 2014 Jul;122:113-5. doi: 10.1016/j.clineuro.2014.04.022. Epub 2014 May 4.
No abstract available

Keywords: Brain biopsy; Colony-stimulating factor 1 receptor; Hereditary diffuse leukencephalopathy with axonal spheroids; Magnetic resonance imaging; Pigmented orthochromatic leukodystrophy.

Publication types

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

MeSH terms

  • Biopsy
  • Gliosis / congenital*
  • Gliosis / diagnosis
  • Gliosis / genetics
  • Gliosis / pathology
  • Humans
  • Leukoencephalopathies* / diagnosis
  • Leukoencephalopathies* / genetics
  • Leukoencephalopathies* / pathology
  • Male
  • Middle Aged
  • Receptor, Macrophage Colony-Stimulating Factor / genetics*

Substances

  • Receptor, Macrophage Colony-Stimulating Factor

Supplementary concepts

  • Hereditary Diffuse Leukoencephalopathy with Spheroids