autosomal dominant adult-onset leukodystrophy without amyloid angiopathy

Term ID

DOID:0070788

Synonyms

• ADLDWA

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/

References

• MIM:621214
• UMLS_CUI:C6012728

Ontology

Human Disease   ( DOID:0070788 )