On the other hand, loss-of-function mutations in the CLCN2 gene have been linked to a type of leukodystrophy (white matter disorder), CLCN2-related leukoencephalopathy, characterized by intramyelinic edema in the brain [16,17,18], which is reminiscent of the myelin vacuolation found in ClC-2 knockout mice [10]. This evidence concerns the gene CLCN2 and leukodystrophy.