| 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. |