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

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dc.contributor.authorİŞAK, BARIŞ
dc.contributor.authorsUluc, Kayihan; Baskan, Ozdil; Yildirim, Kadriye Agan; Ozsahin, Selda; Koseoglu, Mesrure; Isak, Baris; Scheper, G. C.; Gunal, Dilek Ince; van der Knaap, M. S.
dc.date.accessioned2022-03-12T17:35:23Z
dc.date.available2022-03-12T17:35:23Z
dc.date.issued2008
dc.description.abstractLeukoencephalopathy 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 magnetic resonance imaging (MRI) and characteristic magnetic resonance spectroscopy (MRS) abnormalities. The patient was compound-heterozygous for two mutations in DARS2. MRI showed selective involvement of cerebral and cerebellar white matter and superior and inferior cerebellar peduncles, without contrast enhancement. The U-fibers were spared. The sensory and the pyramidal tracts were affected over their entire length. Involvement of the intraparenchymal trajectories of the trigeminal nerves and mesencephalic trigeminal tracts was demonstrated. In the spinal cord, signal abnormalities were identified in the dorsal columns and the lateral corticospinal tracts. Proton-MRS of the frontal and cerebellar white matter showed elevated lactate, reduced N-acetylaspartate, increased myoinositol and mildly elevated choline. In LBSL, distinct MRI findings should lead to the diagnosis, which can be confirmed by the analysis of the disease gene DARS2. (c) 2008 Elsevier B.V. All rights reserved.
dc.identifier.doi10.1016/j.jns.2008.06.002
dc.identifier.issn0022-510X
dc.identifier.pubmed18619624
dc.identifier.urihttps://hdl.handle.net/11424/229156
dc.identifier.wosWOS:000259756200025
dc.language.isoeng
dc.publisherELSEVIER SCIENCE BV
dc.relation.ispartofJOURNAL OF THE NEUROLOGICAL SCIENCES
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectleukoencephalopathy
dc.subjectbrain stem and spinal cord involvement
dc.subjectlactate elevation
dc.subjectDISEASE
dc.titleLeukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings
dc.typearticle
dspace.entity.typePublication
local.avesis.ida9eaf4f6-08a4-488f-a032-17c2de8812e6
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages5
oaire.citation.endPage122
oaire.citation.issue1-2
oaire.citation.startPage118
oaire.citation.titleJOURNAL OF THE NEUROLOGICAL SCIENCES
oaire.citation.volume273
relation.isAuthorOfPublication3978eebd-304b-4af3-930c-2db9759c860d
relation.isAuthorOfPublication.latestForDiscovery3978eebd-304b-4af3-930c-2db9759c860d

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