VARS2 leukoencephalopathy

Evidence-based neurology checklist on vars2 leukoencephalopathy: Genetics This is caused by mutations in the VARS gene The gene encodes valine aminoacyl-tRNA synthetase Clinical features Magnetic resonance imaging (MRI) brain: features

Genetics

  • This is caused by mutations in the VARS gene
  • The gene encodes valine aminoacyl-tRNA synthetase

Clinical features

Magnetic resonance imaging (MRI) brain: features

References

  1. Friedman J, Smith DE, Issa MY, et al. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun 2019; 10:707.
  2. Stephen J, Nampoothiri S, Banerjee A, et al. Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. Hum Genet 2018; 137:293-303.
  3. Begliuomini C, Magli G, Di Rocco M, et al. VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype. BMC Med Genet 2019; 20:77. 

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