CARS2 leukoencephalopathy

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

CARS2 leukoencephalopathy. This is caused by mutations in the CARS2 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the CARS2 gene
  • The gene encodes cysteinyl aminoacyl tRNA synthetase

Clinical features

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Magnetic resonance imaging (MRI) brain: features

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Blood tests

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References

  1. Coughlin CR 2nd, Scharer GH, Friederich MW, et al. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet 2015; 52:532-540.
  2. Hallmann K, Zsurka G, Moskau-Hartmann S, et al. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology 2014; 83:2183-2187.
  3. Kuo ME, Theil AF, Kievit A, et al. Cysteinyl-tRNA Synthetase mutations cause a multi-system, recessive disease that includes microcephaly, developmental delay, and brittle hair and nails. Am J Hum Genet 2019; 104:520-529. 

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