ELAC2 leukoencephalopathy

Evidence-based neurology checklist on elac2 leukoencephalopathy: Genetics and pathogenesis This is caused by mutations in the ELAC2 gene The gene is involved in mitochondrial tRNA processing Neurological features Systemic features Differential diagnosis Magnetic resonance imaging (MRI) brain:…

Genetics and pathogenesis

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

Neurological features

Systemic features

Differential diagnosis

Magnetic resonance imaging (MRI) brain: features

Urinary organic acids

Muscle biopsy

Treatment

Acronym

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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