Disease

adult-onset autosomal dominant demyelinating leukodystrophy

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.
Synonyms
  • ADLD
  • adult-onset autosomal dominant leukodystrophy
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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Associated Models