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Tang, P. LBSL. Encyclopedia. Available online: https://encyclopedia.pub/entry/6060 (accessed on 20 September 2026).
Tang P. LBSL. Encyclopedia. Available at: https://encyclopedia.pub/entry/6060. Accessed September 20, 2026.
Tang, Peter. "LBSL" Encyclopedia, https://encyclopedia.pub/entry/6060 (accessed September 20, 2026).
Tang, P. (2021, January 04). LBSL. In Encyclopedia. https://encyclopedia.pub/entry/6060
Tang, Peter. "LBSL." Encyclopedia. Web. 04 January, 2021.
LBSL
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-brainstem-and-spinal-cord-involvement-and-lactate-elevation

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that transmit nerve impulses.

genetic conditions

References

  1. Lin J, Chiconelli Faria E, Da Rocha AJ, Rodrigues Masruha M, Pereira Vilanova LC, Scheper GC, Van der Knaap MS. Leukoencephalopathy with brainstem and spinalcord involvement and normal lactate: a new mutation in the DARS2 gene. J ChildNeurol. 2010 Nov;25(11):1425-8. doi: 10.1177/0883073810370897.
  2. 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. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stemand spinal cord involvement and lactate elevation. Nat Genet. 2007Apr;39(4):534-9.
  3. Uluc K, Baskan O, Yildirim KA, Ozsahin S, Koseoglu M, Isak B, Scheper GC,Gunal DI, van der Knaap MS. Leukoencephalopathy with brain stem and spinal cordinvolvement and high lactate: a genetically proven case with distinct MRIfindings. J Neurol Sci. 2008 Oct 15;273(1-2):118-22. doi:10.1016/j.jns.2008.06.002.
  4. van der Knaap MS, Salomons GS. Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation. 2010 May 25 [updated 2015 Feb 12]. In:Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK43417/
  5. 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. A newleukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol. 2003 Feb;53(2):252-8.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Peter Tang
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Entry Collection: MedlinePlus
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Update Date: 04 Jan 2021
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