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CASE REPORT
Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene
  1. Anudeep Yelam1,
  2. Elanagan Nagarajan2,
  3. Miguel Chuquilin3 and
  4. Raghav Govindarajan1
  1. 1 Neurology, University of Missouri Health Care, Columbia, Missouri, USA
  2. 2 Neurology, Howard Hughes Medical Institute, School of Medicine, University of Missouri Columbia, Columbia, Missouri, USA
  3. 3 Neurology, University of Florida College of Medicine, Gainesville, Florida, USA
  1. Correspondence to Dr Elanagan Nagarajan, nagarajane{at}health.missouri.edu

Abstract

Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a very rare autosomal recessive, slowly progressive neurological disorder characterised by distinctive clinical findings including cerebellar, pyramidal and dorsal column dysfunction. This is caused by a mutation in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase. MRI shows distinctive abnormalities in the cerebral white matter and specific brain stem and spinal cord tracts. Here, we present a case of LBSL, with a novel c.1192-2A>G mutation.

  • muscle disease
  • neuro genetics
  • neuroimaging
  • neuromuscular disease
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Footnotes

  • AY and EN contributed equally.

  • Contributors AY and EN conceived the original idea for the manuscript, drafting and revision of the manuscript. MC and RG revised the manuscript for intellectual content.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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