NARS2 leukoencephalopathy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

NARS2 leukoencephalopathy. This is caused by mutations in the NARS2 gene. Fully referenced neurology checklist.

Genetics

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

Developmental features

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Neurological features

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Features of Alpers syndrome

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Magnetic resonance imaging (MRI) brain

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Other tests

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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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