EPRS leukoencephalopathy

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

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

Genetics

  • This is caused by mutations in the EPRS gene
  • The gene encodes glutamyl-prolyl-aminoacyl-tRNA synthetase

Clinical features

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Magnetic resonance imaging (MRI) brain: features

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References

  1. Mendes MI, Gutierrez Salazar M, Guerrero K, et al. Bi-allelic mutations in EPRS, encoding the glutamyl-prolyl-aminoacyl-tRNA synthetase, cause a hypomyelinating leukodystrophy. Am J Hum Genet 2018; 102:676-684.

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