Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.

doi:10.1093/brain/awu026

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Article

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.

Brain : a journal of neurology - 1 Apr 2014

van Berge Laura, Hamilton Eline M, Linnankivi Tarja, Uziel Graziella, Steenweg Marjan E, Isohanni Pirjo, Wolf Nicole I, Krägeloh-Mann Ingeborg, Brautaset Nils J, Andrews P Ian, de Jong Brigit A, al Ghamdi Malak, van Wieringen Wessel N, Tannous Bakhos A, Hulleman Esther, Würdinger Thomas, van Berkel Carola G M, Polder Emiel, Abbink Truus E M, Struys Eduard A, Scheper Gert C, van der Knaap Marjo S

Abstract excerpt

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a disorder caused by recessive mutations in the gene DARS2, which encodes mitochondrial aspartyl-tRNA synthetase. Recent observations indicate that the phenotypic range of the disease is much wider than initially thought. Currently, no treatment is available. The aims of our study were (i) to explore a possible...

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Identifiers

PMID: 24566671
DOI: 10.1093/brain/awu026

Genes

DARS2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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