These results support that, besides the structural damages in TUBB4A and the corresponding hypomyelination of the central white matter, the clinical neurophysiology evaluation can be a valuable tool to determine the integrity of myelin sheaths in human patients suffering from this tubulinopathy and it could be useful in other leukodystrophies or leukoencephalopathies [28, 29]. Here, TUBB4A is linked to Leukoencephalopathy.