Table 1 Neurological disorders associated with mt-aaRS mutations

 DARS2

Leukoencephalopathy with brainstem and spinal cord involvement (LBSL)

 EARS2

Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)

 AARS2

Ovario-leukodystrophy; rapid development of motor, cognitive, and psychiatric dysfunction

 MARS2

Skeletal dysplasia, infantile cataracts, congenital neurotrophic keratitis, orbital myopathy, Leigh syndrome

 RARS

Pontocerebellar hypoplasia type 6

 VARS2

Mitochondrial encephalomyopathy; psychomotor delay, epilepsy, intellectual disability, growth hormone deficiency, hyogonadism

 WARS2

Autosomal recessive intellectual disability

Mitochondrial encephalopathy

Infantile-onset Parkinsonism

 TARS2

Mitochondrial encephalomyopathy

Axial hypotonia and limb hypertonia, psychomotor delay, and high levels of blood lactate

 FARS2

Alpers sydnome, encephalopathy, epilepsy, lactic acidosis, spastic paraplegia

 LARS2

Perrault syndrome—sensorineural deafness, ovarian abnormality, cognitive impairment, areflexia, dysarthia, and hyporeflexia

 HARS2

Perrault syndrome

 PARS2

Non-syndromic deafness, Leigh syndrome, intellectual disability with epilepsy and severe myopathy

 NARS2

Non-syndromic deafness, Leigh syndrome, Alpers syndrome, infantile onset neurodegenerative disorder