Two cases allowed us to define the minimum critical duplicated region required for the development of ADLD which was ∼72 kb, and extended from ∼9.9 kb upstream of the 5′-UTR, and ∼1.8 kb downstream of the 3′-UTR of LMNB1 (Fig. 1A). The gene discussed is LMNB1; the disease is adult-onset autosomal dominant demyelinating leukodystrophy.