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. Here, SCP2 is linked to Dystonia.