DARS2 leukoencephalopathy

Evidence-based neurology checklist on dars2 leukoencephalopathy: Genetics This is caused by mutations in the DARS2 gene The gene encodes mitochondrial aspartyl transfer RNA synthetase protein The transmission is autosomal recessive Onset types Clinical features Differential diagnosis Magnetic…

Genetics

  • This is caused by mutations in the DARS2 gene
  • The gene encodes mitochondrial aspartyl transfer RNA synthetase protein
  • The transmission is autosomal recessive

Onset types

Clinical features

Differential diagnosis

Magnetic resonance imaging (MRI) brain: lesion sites

Magnetic resonance imaging (MRI) brain: spared sites

Magnetic resonance spectroscopy (MRS)

Synonym

References

  1. van Berge L, Hamilton EM, Linnankivi T, et al; LBSL Research Group. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. Brain 2014; 137:1019-1029. 
  2. Marelli C, Salsano E, Politi LS, Labauge P. Spinal cord involvement in adult-onset metabolic and genetic diseases. JNNP 2018; pii: jnnp-2018-318666 (Epub ahead of print).
  3. Lan MY, Chang YY, Yeh TH, Lin TK, Lu CS. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis. J Neurol Sci 2017; 372:229-231.
  4. Synofzik M, Schicks J, Lindig T, et al. Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet 2011; 48:713-715. 
  5. Toldo I, Nosadini M, Boscardin C, et al. Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations. Metab Brain Dis 2018; 33:805-812. 
  6. And 8 more. Subscribe to see the full list

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