Mutation in SCP2 can cause leukoencephalopathy with dystonia and motor neuropathy and accumulation of the branched-chain fatty acid pristanic acid in plasma (OMIM:613724).[15] Seedorf et al. demonstrated that mice with targeted SCP2 gene disruption developed ataxia, reduced muscle tone, and peripheral neuropathy (uncoordinated movements, unsteady gait, and trembling).[16] As expected in this case of SCP2 haploinsufficiency, leukoencephalopathy was present, which indicates that SCP2 may explain part of the phenotype of our case. This evidence concerns the gene SCP2 and peripheral neuropathy.