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.
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
タイトル
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.
