leukoencephalopathy, diffuse hereditary, with spheroids

Genetics

• autosomal dominant
• associated with defects in CSF1R

Clinical manifestations

• adult-onset rapidly progressive neurodegenerative disorder
• variable behavioral
• cognitive, & motor changes

Radiology

• magnetic resonance imaging
  • patchy abnormalities in the cerebral white matter predominantly affecting the frontal lobe & parietal lobe

Complications

• patients often die of dementia within 6 years of onset

More general terms

• neurodegenerative disease
• genetic disease of the central nervous system

Database

• OMIM: https://mirror.omim.org/entry/221820