EARS2 leukoencephalopathy

Evidence-based neurology checklist on ears2 leukoencephalopathy: Genetics This is caused by mutations in the EARS2 gene The gene encodes mitochondrial glutamyl-tRNA synthetase (mtGluRS) The transmission is autosomal recessive The onset is in infancy Clinical features Magnetic resonance imaging…

Genetics

  • This is caused by mutations in the EARS2 gene
  • The gene encodes mitochondrial glutamyl-tRNA synthetase (mtGluRS)
  • The transmission is autosomal recessive
  • The onset is in infancy

Clinical features

Magnetic resonance imaging (MRI) features

Magnetic resonance imaging (MRI) brain: lesion locations

Synonym

References

  1. Biancheri R, Lamantea E, Severino M, et al. Expanding the clinical and magnetic resonance spectrum of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) in a patient harboring a novel EARS2 mutation. JIMD Rep 2015; 23:85-89.
  2. Oliveira R, Sommerville EW, Thompson K, et al. Lethal neonatal LTBL associated with biallelic EARS2 variants: case report and review of the reported neuroradiological features. JIMD Rep 2017; 33:61-68.
  3. Taskin BD, Karalok ZS, Gurkas E, et al. Early-onset mild type leukoencephalopathy caused by a homozygous EARS2 mutation. J Child Neurol 2016; 31:938-941. 
  4. Kevelam SH, Klouwer FC, Fock JM, Salomons GS, Bugiani M, van der Knaap MS. Absent thalami caused by a homozygous EARS2 mutation: expanding disease spectrum of LTBL. Neuropediatrics 2016; 47:64-67.
  5. Steenweg ME, Ghezzi D, Haack T, et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 2012; 135:1387-1394.

Related checklists

Loading...