NFU1 and Leukoencephalopathy: In 5 out of 15 published cases neuroimaging data were available and it has been suggested that signs of leukoencephalopathy in the periventricular white matter and corpus callosum with partial cystic degeneration and cavitations, described in more detail in two patients, could be a specific MRI pattern related to MMDS1 (Invernizzi et al., 2014; Nizon et al., 2014).