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adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease leukodystrophy
External Links
- Disease Ontology
- DOID:0080523
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P10619 | Lysosomal protective protein |
