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