A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids

J Neurol Sci. 2013 Sep 15;332(1-2):141-4. doi: 10.1016/j.jns.2013.06.007. Epub 2013 Jun 28.


We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait disturbance. MRI brain showed extensive white matter change with a frontal predominance and associated atrophy in two members of the family. Genetic testing revealed a novel mutation c.2342C>T (p.A781V) in the CSF1R gene in two brothers of the family. This report highlights the difficulties in diagnosing HDLS and discusses the indications for testing for mutations in the CSF1R gene.

Keywords: Behavioural change; CSF1R; Dementia; Frontal dementia; HDLS; Leucoencephalopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alanine / genetics*
  • Family Health
  • Female
  • Fluorodeoxyglucose F18
  • Genetic Testing
  • Humans
  • Leukoencephalopathies / genetics
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Positron-Emission Tomography
  • Receptor, Macrophage Colony-Stimulating Factor / genetics*
  • Valine / genetics*


  • Fluorodeoxyglucose F18
  • Receptor, Macrophage Colony-Stimulating Factor
  • Valine
  • Alanine

Supplementary concepts

  • Hereditary Diffuse Leukoencephalopathy with Spheroids