Skip to main content

Advertisement

Table 1 Neurological disorders associated with mt-aaRS mutations

From: Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination

Leukodystrophy
 DARS2Leukoencephalopathy with brainstem and spinal cord involvement (LBSL)
 EARS2Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
 AARS2Ovario-leukodystrophy; rapid development of motor, cognitive, and psychiatric dysfunction
 MARS2Skeletal dysplasia, infantile cataracts, congenital neurotrophic keratitis, orbital myopathy, Leigh syndrome
Encephalopathy
 RARSPontocerebellar hypoplasia type 6
 VARS2Mitochondrial encephalomyopathy; psychomotor delay, epilepsy, intellectual disability, growth hormone deficiency, hyogonadism
 WARS2Autosomal recessive intellectual disability
Mitochondrial encephalopathy
Infantile-onset Parkinsonism
 TARS2Mitochondrial encephalomyopathy
Axial hypotonia and limb hypertonia, psychomotor delay, and high levels of blood lactate
 FARS2Alpers sydnome, encephalopathy, epilepsy, lactic acidosis, spastic paraplegia
Perrault syndrome
 LARS2Perrault syndrome—sensorineural deafness, ovarian abnormality, cognitive impairment, areflexia, dysarthia, and hyporeflexia
 HARS2Perrault syndrome
 PARS2Non-syndromic deafness, Leigh syndrome, intellectual disability with epilepsy and severe myopathy
 NARS2Non-syndromic deafness, Leigh syndrome, Alpers syndrome, infantile onset neurodegenerative disorder