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adult-onset autosomal dominant demyelinating leukodystrophy

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.
Uniprot Description A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008215:  adult-onset autosomal dominant demyelinating leukodystrophy
GARD:0010587: 
MESH:C566813: 
Orphanet:99027: 
SCTID:448054001: