The disease is characterized by neonatal onset neurological symptoms such as seizures which is accompanied by global developmental delay, severe microcephaly, spasticity, and contractures. Neuroimaging typically shows leukodystrophy in the initial stages followed by cerebral and cerebellar atrophy, bilateral basal ganglia T2 hypo-intensities and thinning of corpus callosum. Common electroencephalographic findings include multifocal spike wave discharges. This syndrome is inherited in an autosomal recessive manner. Homozygous loss of function variants in AIMP2 have been described to result in neurodevelopmental disturbances in three families so far.
AIMP2