Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by symmetrical widespread myelin loss in the central nervous system. Although a phenotype is similar to that of multiple sclerosis, ADLD neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. It has been reported that ADLD can be caused by a tandem genomic duplication resulting in an extra copy of the lamin B1 gene.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Multiple sclerosis or other white matter disorders
8A44 Leukodystrophies
H01230 Adult-onset autosomal dominant leukodystrophy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H01230 Adult-onset autosomal dominant leukodystrophy
Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS
Title
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.
