autosomal dominant adult-onset leukodystrophy without amyloid angiopathy Disease Ontology Browser

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autosomal dominant adult-onset leukodystrophy without amyloid angiopathy (DOID:0070788)
Alliance: disease page
Synonyms: ADLDWA
Alt IDs: OMIM:621214, UMLS_CUI:C6012728
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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