A founder mutation, p.(Arg590Trp) in AARS2, encoding the mt alanyl tRNA synthetase may predominantly affect the heart (infantile cardiomyopathy) [98,99], while other AARS2 mutations are characterized by childhood- to adulthood-onset ataxia, spasticity, and dementia with frontal lobe dysfunction with leukoencephalopathy, cerebellar atrophy, and involvement of the corpus callosum on MRI [100]. Here, AARS2 is linked to Ataxia.