| Metadata | |
|---|---|
| ID | DOID:0070788 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070788 Copy |
| Name | autosomal dominant adult-onset leukodystrophy without amyloid angiopathy |
| Definition | A leukodystrophy characterized by adult onset of variable neurologic symptoms, including recurrent hemiplegic migraine associated with transient focal deficits, progressive motor abnormalities, and cognitive decline; brain imaging changes involving the deep cerebral white matter, posterior limb of the internal capsule, middle cerebellar peduncles, cerebral peduncles, and globus pallidus; micro- to macrocystic degeneration and cystatin C aggregates in the neuropil; and decreased cystatin C levels in serum and cerebrospinal fluid that has_material_basis_in heterozygous mutation in the CST3 gene on chromosome 20p11. https://pubmed.ncbi.nlm.nih.gov/38489591/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621214 exactMatch UMLS_CUI:C6012728 |
| Subsets |
DO_rare_slim |
| Synonyms |
ADLDWA [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 |