typical adult-onset autosomal dominant demyelinating leukodystrophy

Term ID

DOID:0060785

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. (3)

References

• GARD:10587
• MIM:169500
• SNOMEDCT_US_2023_03_01:448054001
• UMLS_CUI:C3164344

Ontology

Human Disease   ( DOID:0060785 )