Besides global white matter abnormalities and neuropathological features (Table 1), a major hallmark of ALSP is the presence of axonal spheroids, which contain organelles and aggregated proteins, such as neurofilament and amyloid precursor protein (APP) (Lin et al., 2010). This evidence concerns the gene APP and Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.