Journal of Neurology

, Volume 259, Issue 2, pp 292–296 | Cite as

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene

  • Charalampos Tzoulis
  • Gia Tuong Tran
  • Ivar Otto Gjerde
  • Jan Aasly
  • Gesche Neckelmann
  • Jana Rydland
  • Viktoria Varga
  • Pia Wadel-Andersen
  • Laurence A. Bindoff
Original Communication

Abstract

Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) is a rare, autosomal recessive disorder caused by mutations in the gene encoding a mitochondrial aspartyl-tRNA synthetase, DARS2. The disease is characterized by progressive spastic ataxia and magnetic resonance imaging (MRI) shows a highly characteristic leukoencephalopathy with multiple long tract involvement. We describe the clinical and radiological features of two new cases of LBSL and report a novel pathogenic mutation in the DARS2 gene. Both patients had typical clinical and radiological findings, although no elevated lactate was found. The severity of MRI changes did not correlate with clinical course and severity suggesting that, although of highly specific diagnostic value, MRI does not necessarily reflect clinical activity and should not be used to assess disease severity or prognosis in LBSL.

Keywords

LBSL DARS2 Leukoencephalopathy Mitochondrial Ataxia 

List of abbreviations

LBSL

Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate

MRI

Magnetic resonance imaging

MRS

Magnetic resonance spectroscopy

Notes

Conflict of interest

The authors declare that they have no conflicts of interest.

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Charalampos Tzoulis
    • 1
    • 2
  • Gia Tuong Tran
    • 1
    • 2
  • Ivar Otto Gjerde
    • 1
  • Jan Aasly
    • 3
  • Gesche Neckelmann
    • 4
  • Jana Rydland
    • 5
  • Viktoria Varga
    • 1
  • Pia Wadel-Andersen
    • 6
  • Laurence A. Bindoff
    • 1
    • 2
  1. 1.Department of NeurologyHaukeland University HospitalBergenNorway
  2. 2.Department of Clinical MedicineUniversity of BergenBergenNorway
  3. 3.Department of NeurologySt. Olav’s HospitalTrondheimNorway
  4. 4.Department of RadiologyHaukeland University HospitalBergenNorway
  5. 5.Department of RadiologySt. Olav’s HospitalTrondheimNorway
  6. 6.Department of OphthalmologyHaukeland University HospitalBergenNorway

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