LARS2 leukoencephalopathy

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

LARS2 leukoencephalopathy. This is caused by mutations in the LARS2 gene. Fully referenced neurology checklist.

Genetics

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

Defining features (Perrault syndrome)

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Systemic features

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Differential diagnosis: other genetic causes of Perrault syndrome

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Magnetic resonance imaging (MRI) brain

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Magnetic resonance (MR) spectroscopy

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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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