NARS2 leukoencephalopathy

Evidence-based neurology checklist on nars2 leukoencephalopathy: Genetics This is caused by mutations in the NARS2 gene The gene encodes asparaginyl-aminoacyl-tRNA synthetase Developmental features Neurological features Features of Alpers syndrome Magnetic resonance imaging (MRI) brain Other tests

Genetics

  • This is caused by mutations in the NARS2 gene
  • The gene encodes asparaginyl-aminoacyl-tRNA synthetase

Developmental features

Neurological features

Features of Alpers syndrome

Magnetic resonance imaging (MRI) brain

Other tests

References

  1. Mizuguchi T, Nakashima M, Kato M, et al. PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. J Hum Genet 2017; 62:525-529.
  2. Simon M, Richard EM, Wang X, et al. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet 2015; 11:e1005097. 

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