PARS2 leukoencephalopathy
Evidence-based neurology checklist on pars2 leukoencephalopathy: Genetics This is caused by mutations in the PARS2 gene The gene encodes prolyl-aminoacyl-tRNA synthetase Dysmorphic features Epileptic features Features of Alpers syndrome Other features Magnetic resonance imaging (MRI) brain:…
Genetics
- This is caused by mutations in the PARS2 gene
- The gene encodes prolyl-aminoacyl-tRNA synthetase
Dysmorphic features
Epileptic features
Features of Alpers syndrome
Other features
Magnetic resonance imaging (MRI) brain: features
Other tests
References
- 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.
- 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.
- 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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Related checklists
- AARS2 leukoencephalopathy
- CARS2 leukoencephalopathy
- DARS2 leukoencephalopathy
- EARS2 leukoencephalopathy
- ELAC2 leukoencephalopathy
- EPRS leukoencephalopathy
- FARS2 leukoencephalopathy
- IARS2 leukoencephalopathy
- KARS2 leukoencephalopathy
- LARS2 leukoencephalopathy
- NARS2 leukoencephalopathy
- QARS2 leukoencephalopathy
- RARS2 leukoencephalopathy
- VARS2 leukoencephalopathy
- WARS2 leukoencephalopathy
