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Human Disease

adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Term ID
DOID:0080523
Synonyms
  • hereditary diffuse leukoencephalopathy with spheroids
Definition
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. (2)
References
Ontology
Human Disease   ( DOID:0080523 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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