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Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Presenting Primarily with Exercise Intolerance: A Case Report.

Annals of clinical and laboratory science - 1 Nov 2025

Li Changhao, Chen Wei, Du Juan, Tao Tao

Abstract excerpt

OBJECTIVE: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare autosomal recessive leukodystrophy caused by pathogenic variants in the DARS2 gene. Although the clinical phenotype of LBSL involves a wide spectrum, presentations predominantly characterized by exercise intolerance remain infrequently documented. CASE REPORT: A 24-year-old woman presented with...

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Identifiers

PMID: 41633674

Genes

DARS2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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