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Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.

Brain & development - 1 Oct 2011

Mierzewska Hanna, van der Knaap Marjo S, Scheper Gert C, Bekiesinska-Figatowska Monika, Szczepanik Elzbieta, Jurkiewicz Elzbieta

Abstract excerpt

Leukoencephalopathy with brain stem and spinal cord involvement and elevated white matter lactate (LBSL) is a very rare autosomal recessive mitochondrial disorder. Clinically patients have slowly progressive ataxia, pyramidal syndrome and dorsal column dysfunction. The disease is defined on the basis of characteristic abnormalities observed on magnetic resonance imaging such as inhomogeneous, spotty involvement...

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Identifiers

PMID: 21277128
DOI: 10.1016/j.braindev.2010.12.005

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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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