Homozygous or compound heterozygous mutations in CLCN2 are known causes of Leukoencephalopathy with ataxia (CLCN2-related leukoencephalopathy; MIM615651), a rare autosomal recessive disease that has so far been reported in 18 individuals (Table 1). This evidence concerns the gene CLCN2 and leukoencephalopathy with mild cerebellar ataxia and white matter edema.