Term Name: | adult-onset autosomal dominant demyelinating leukodystrophy |
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Synonyms: | ADLD, adult-onset autosomal dominant leukodystrophy, autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease |
Definition: | A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. |
Ontology: | Human Disease [DOID:0060785] ( DOID:0060785 ) |