Term Name: | typical 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: | An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes. |
Ontology: | Human Disease [DOID:0060785] ( DOID:0060785 ) |