Metadata | |
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ID | DOID:0080523 |
Name | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia |
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. https://www.ncbi.nlm.nih.gov/pubmed/28921817, https://www.ncbi.nlm.nih.gov/pubmed/27680516 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
hereditary diffuse leukoencephalopathy with spheroids [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a leukodystrophy |
Subclass Logical Relationships |
existence starts during some Adult onset has material basis in some autosomal dominant inheritance |