ELAC2 leukoencephalopathy

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

ELAC2 leukoencephalopathy. This is caused by mutations in the ELAC2 gene. Fully referenced neurology checklist.

Genetics and pathogenesis

  • This is caused by mutations in the ELAC2 gene
  • The gene is involved in mitochondrial tRNA processing

Neurological features

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Systemic features

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Differential diagnosis

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Magnetic resonance imaging (MRI) brain: features

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Urinary organic acids

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Muscle biopsy

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Treatment

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Acronym

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References

  1. Shinwari ZMA, Almesned A, Alakhfash A, et al. The phenotype and outcome of infantile cardiomyopathy caused by a homozygous ELAC2 mutation. Cardiology 2017 137:188-192.
  2. Paucar M, Pajak A, Freyer C, et al. Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations. Neurology 2018; 91:710-712.
  3. Akawi NA, Ben-Salem S, Hertecant J, et al. A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. Orphanet J Rare Dis 2016; 11:139.
  4. Haack TB, Kopajtich R, Freisinger P, et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet 2013; 93:211-223.

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