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

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. 
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Related checklists

• AARS2 leukoencephalopathy
• CARS2 leukoencephalopathy
• EARS2 leukoencephalopathy
• ELAC2 leukoencephalopathy
• EPRS leukoencephalopathy
• FARS2 leukoencephalopathy
• IARS2 leukoencephalopathy
• KARS2 leukoencephalopathy
• LARS2 leukoencephalopathy
• NARS2 leukoencephalopathy
• PARS2 leukoencephalopathy
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• RARS2 leukoencephalopathy
• VARS2 leukoencephalopathy
• WARS2 leukoencephalopathy