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

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. (2)

References

• GARD:10587
• OMIM:169500
• ORDO:99027
• SNOMEDCT_US_2023_03_01:448054001
• UMLS_CUI:C3164344

Ontology

Human Disease   ( DOID:0060785 )