Subsequent to the identification of LMNB1 duplications as the genetic cause underlying ADLD, a 600 Kb deletion upstream of the LMNB1 gene was reported in a single large Italian pedigree with an adult onset demyelinating phenotype similar to ADLD (Figure 1D). This evidence concerns the gene LMNB1 and adult-onset autosomal dominant demyelinating leukodystrophy.