Skip to main content
Log in

Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis

  • Letter to the Editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

References

  1. Van der Knaap MS, Van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ (2003) A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 53(2):252–258

    Article  PubMed  Google Scholar 

  2. Petzold GC, Bohner G, Klingebiel R, Amberger N, Van der Knaap MS, Zschenderlein R (2006) Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate. J Neurol Neurosurg Psychiatry 77(7):889–891. doi:10.1136/jnnp.2005.078568

    Article  PubMed  CAS  Google Scholar 

  3. Scheper GC, Van der Klok T, Van Andel RJ, Van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, Van der Knaap MS (2007) Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genetics 39(4):534–539

    Article  CAS  Google Scholar 

  4. Labauge P, Roullet E, Boespflug-Tanguy O, Nicoli F, Le Fur Y, Cozzone PJ, Ducreux D, Rodriguez D (2007) Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression. Eur Neurol 58(1):59–61

    Article  PubMed  Google Scholar 

  5. Labauge P, Dorboz I, Eymard-Pierre E, Dereeper O, Boespflug-Tanguy O (2011) Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations. J Neurol 258(2):335–337

    Article  PubMed  Google Scholar 

  6. Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schöls L (2011) Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet 48(10):713–715

    Article  PubMed  CAS  Google Scholar 

  7. Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N (2011) A novel homozygous mutation of DARS2 may cause a severe LBSL variant. Clin Genet 80(3):293–296

    Article  PubMed  CAS  Google Scholar 

Download references

Conflicts of interest

S. Arthur Moore, Neeraj Kumar, and Ralitza H. Gavrilova have nothing to disclose. No IRB approval was required as this is a case report of an individual patient. No patient consent was obtained as this is a case report in which the proband is unrecognizable based on the information presented.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Ralitza H. Gavrilova.

Additional information

Ralitza H. Gavrilova has full access to all of the data and has the right to publish any and all data separate and apart from any sponsor.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Moore, S.A., Kumar, N. & Gavrilova, R.H. Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis. J Neurol 259, 2494–2497 (2012). https://doi.org/10.1007/s00415-012-6596-1

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-012-6596-1

Keywords

Navigation