RARS2 leukoencephalopathy

Evidence-based neurology checklist on rars2 leukoencephalopathy: Genetics This is caused by mutations in the RARS2 gene The gene encodes arginyl-aminoacyl-tRNA synthetase Clinical features Magnetic resonance imaging (MRI) brain: features Other tests

Genetics

  • This is caused by mutations in the RARS2 gene
  • The gene encodes arginyl-aminoacyl-tRNA synthetase

Clinical features

Magnetic resonance imaging (MRI) brain: features

Other tests

References

  1. Glamuzina E, Brown R, Hogarth K, et al. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. J Inherit Metab Dis 2012; 35:459-467.
  2. Lühl S, Bode H, Schlötzer W, Bartsakoulia M, et al. Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia-further expansion of the phenotypic spectrum. Orphanet J Rare Dis 2016; 11:140.
  3. Kastrissianakis K, Anand G, Quaghebeur G, et al. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations. Arch Dis Child 2013; 98:1004-1007.

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