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Article

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings.

Journal of the neurological sciences - 15 Oct 2008

Uluc Kayihan, Baskan Ozdil, Yildirim Kadriye Agan, Ozsahin Selda, Koseoglu Mesrure, Isak Baris, Scheper G C, Gunal Dilek Ince, van der Knaap M S

Abstract excerpt

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a recently described disorder with autosomal recessive mode of inheritance. Lately, mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase, have been found as the underlying defect. We report a 19-year-old male patient with cerebellar, pyramidal and dorsal column dysfunctions and specific...

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Source

Identifiers

PMID: 18619624
DOI: 10.1016/j.jns.2008.06.002

Genes

DARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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