Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene

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dc.contributor.authorLin, Jaime [UNIFESP]
dc.contributor.authorFaria, Eliete Chiconelli
dc.contributor.authorDa Rocha, Antonio Jose
dc.contributor.authorMasruha, Marcelo Rodrigues
dc.contributor.authorPereira Vilanova, Luiz Celso
dc.contributor.authorScheper, Gert C.
dc.contributor.authorVan der Knaap, Marjo S.
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionFac Ciencias Med Santa Casa São Paulo
dc.contributor.institutionVrije Univ Amsterdam
dc.date.accessioned2016-01-24T14:05:41Z
dc.date.available2016-01-24T14:05:41Z
dc.date.issued2010-11-01
dc.description.abstractLeukoencephalopathy with brainstem and spinal cord involvement and elevated brain lactate diagnosis is based on its highly characteristic pattern of abnormalities observed by magnetic resonance imaging and spectroscopy. Clinically, affected patients develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. in 2007, the pathophysiology of this disorder was elucidated with the discovery of mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase, in affected individuals. Here, the authors present a case of leukoencephalopathy with brainstem and spinal cord involvement with normal brain lactate, in which genetic analysis revealed a new mutation in the DARS2 gene not previously described.en
dc.description.affiliationUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, Div Child Neurol, BR-04023900 São Paulo, Brazil
dc.description.affiliationFac Ciencias Med Santa Casa São Paulo, Dept Radiol, São Paulo, Brazil
dc.description.affiliationVrije Univ Amsterdam, Med Ctr, Dept Pediat & Child Neurol, Amsterdam, Netherlands
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, Div Child Neurol, BR-04023900 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent1425-1428
dc.identifierhttp://dx.doi.org/10.1177/0883073810370897
dc.identifier.citationJournal of Child Neurology. Thousand Oaks: Sage Publications Inc, v. 25, n. 11, p. 1425-1428, 2010.
dc.identifier.doi10.1177/0883073810370897
dc.identifier.issn0883-0738
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/33071
dc.identifier.wosWOS:000284155600022
dc.language.isoeng
dc.publisherSage Publications Inc
dc.relation.ispartofJournal of Child Neurology
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://www.uk.sagepub.com/aboutus/openaccess.htm
dc.subjectleukoencephalopathyen
dc.subjectbrainstemen
dc.subjectspinal corden
dc.subjectlactateen
dc.titleLeukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Geneen
dc.typeinfo:eu-repo/semantics/article
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