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Article

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

Journal of neurology - 1 Feb 2012

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 21792730
DOI: 10.1007/s00415-011-6176-9

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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