Conditions / Genetic

adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

info ยท Genetic

A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32.

Signs and symptoms

  • Seizure
  • Global brain atrophy
  • Impaired executive functioning
  • Dysphagia
  • Parkinsonism
  • Memory impairment
  • Gait disturbance
  • Dysarthria
  • Corpus callosum atrophy
  • Mutism

Also known as: hereditary diffuse leukoencephalopathy with spheroids