There is no known human disease associated with the loss-of-function mutation in LMNB1. LMNB1 gene duplication causes adult-onset autosomal dominant leukodystrophy (ADLD), characterized by CNS demyelination with a chronic multiple sclerosis-like phenotype [64]. The gene discussed is LMNB1; the disease is adult-onset autosomal dominant demyelinating leukodystrophy.