| Onset of disease between 2 and 5 years of age with characteristics of cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes. This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress. |
