| Metadata | |
|---|---|
| ID | DOID:0060785 |
| Name | typical adult-onset autosomal dominant demyelinating leukodystrophy |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/19151023, https://www.ncbi.nlm.nih.gov/pubmed/16951681, https://www.ncbi.nlm.nih.gov/books/NBK338165/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:448054001 |
| Subsets |
DO_rare_slim |
| Synonyms |
ADLD [EXACT] adult-onset autosomal dominant leukodystrophy [EXACT] autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Adult onset has material basis in some autosomal dominant inheritance |