KARS2 leukoencephalopathy

Evidence-based neurology checklist on kars2 leukoencephalopathy: Genetics This is caused by mutations in the KARS gene The gene encodes lysyl- transfer ribonucleic acid (tRNA) synthetase KARS2 mutations also cause Charcot Marie Tooth disease (CMT) They are also seen with congenital deafness and…

Genetics

  • This is caused by mutations in the KARS gene
  • The gene encodes lysyl- transfer ribonucleic acid (tRNA) synthetase
  • KARS2 mutations also cause Charcot Marie Tooth disease (CMT)
  • They are also seen with congenital deafness and adult-onset leukoencephalopathy (DEAPLE)
  • The transmission is autosomal recessive

Neurological features

Systemic features

Magnetic resonance imaging (MRI) brain: features

Blood investigations

Synonym

References

  1. van der Knaap MS, Bugiani M, Mendes MI, et al. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. Neurology 2019; 92:e1225-e1237.
  2. Itoh M, Dai H, Horike SI, et al. Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy. Brain 2019; 142:560-573.
  3. Zhou XL, He LX, Yu LJ, et al. Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: potential pathogenic mechanism. Hum Mutat 2017; 38:1740-1750.
  4. Ardissone A, Tonduti D, Legati A, et al. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature. Orphanet J Rare Dis 2018; 13:45. 
  5. Sun C, Song J, Jiang Y, et al. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet 2019; 5:e565.
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