LARS2 leukoencephalopathy

Evidence-based neurology checklist on lars2 leukoencephalopathy: Genetics This is caused by mutations in the LARS2 gene The gene encodes mitochondrial leucyl-tRNA synthetase Defining features (Perrault syndrome) Systemic features Differential diagnosis: other genetic causes of Perrault syndrome…

Genetics

  • This is caused by mutations in the LARS2 gene
  • The gene encodes mitochondrial leucyl-tRNA synthetase

Defining features (Perrault syndrome)

Systemic features

Differential diagnosis: other genetic causes of Perrault syndrome

Magnetic resonance imaging (MRI) brain

Magnetic resonance (MR) spectroscopy

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. Riley LG, Rudinger-Thirion J, Schmitz-Abe K, et al. LARS2 variants associated with hydrops, lactic acidosis, sideroblastic anemia, and multisystem failure. JIMD Rep 2016; 28:49-57.
  3. Carminho-Rodrigues MT, Klee P, Laurent S, et al. LARS2-Perrault syndrome: a new case report and literature review. BMC Med Genet 2020; 21:109.
  4. Kosaki R, Horikawa R, Fujii E, Kosaki K. Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. Am J Med Genet A 2018; 176:404-408.
  5. Chada D, Viswanathan LG, Santhoshkumar R, et al. Manifestations and diagnostic challenges in a 16-year-old with early-onset ataxia. Neurology2025; 104:e210253.

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