A duplication of the laminB1 gene (LMNB1) is associated with adult-onset autosomal dominant leukodystrophy, a slowly progressive neurological disorder in which there is symmetrical and widespread myelin loss in the central nervous system. Adrenoleukodystrophy (Siemerling–Creutzfedt disease, bronze Schilder disease) is an X-linked disorder in which there is a defect in peroxisomal β-oxidation leading to the accumulation of saturated very long chain fatty acids in tissues, with particularly serious consequences in the nervous system. It is caused by mutation in the ATPase binding cassette protein (ABCD1) gene. Neonatal adrenoleukodystrophy is a result of mutation in the peroxisome receptor gene (PTS1R, PEX5) or peroxin genes. Metachromatic leukodystrophies are a group of disorders with allelic variants (late infantile, juvenile, and adult forms, partial cerebroside sulphate deficiency, and pseudoarylsulphatase A deficiency) caused by deficiencies in aryl sulphatase A and nonallelic forms caused by saposin B deficiency and by multiple sulphatase deficiency. Adrenomyeloneuropathy is a form of the disorder in which muscular and neural side effects are prominent.
Subjects: Medicine and Health.