OBO ID: DOID:0080523
Term Name: adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Search Ontology:
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)
OTHER adult-onset leukoencephalopathy with axonal spheroids and pigmented glia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids 1 221820
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)