PARS2 leukoencephalopathy

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

PARS2 leukoencephalopathy. This is caused by mutations in the PARS2 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the PARS2 gene
  • The gene encodes prolyl-aminoacyl-tRNA synthetase

Dysmorphic features

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Epileptic features

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Features of Alpers syndrome

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Other features

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Magnetic resonance imaging (MRI) brain: features

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Other tests

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References

  1. Yin X, Tang B, Mao X, et al. The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy. J Hum Genet 2018; 63:971-980.
  2. Ciara E, Rokicki D, Lazniewski M, et al. Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations. J Hum Genet 2018; 63:473-485.
  3. Mizuguchi T, Nakashima M, Kato M, et al. PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. J Hum Genet 2017; 62:525-529. 

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