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

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dc.contributor.author Lin, Jaime [UNIFESP]
dc.contributor.author Faria, Eliete Chiconelli
dc.contributor.author Da Rocha, Antonio Jose
dc.contributor.author Masruha, Marcelo Rodrigues
dc.contributor.author Pereira Vilanova, Luiz Celso
dc.contributor.author Scheper, Gert C.
dc.contributor.author Van der Knaap, Marjo S.
dc.date.accessioned 2016-01-24T14:05:41Z
dc.date.available 2016-01-24T14:05:41Z
dc.date.issued 2010-11-01
dc.identifier http://dx.doi.org/10.1177/0883073810370897
dc.identifier.citation Journal of Child Neurology. Thousand Oaks: Sage Publications Inc, v. 25, n. 11, p. 1425-1428, 2010.
dc.identifier.issn 0883-0738
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/33071
dc.description.abstract Leukoencephalopathy 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.format.extent 1425-1428
dc.language.iso eng
dc.publisher Sage Publications Inc
dc.relation.ispartof Journal of Child Neurology
dc.rights Acesso restrito
dc.subject leukoencephalopathy en
dc.subject brainstem en
dc.subject spinal cord en
dc.subject lactate en
dc.title Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene en
dc.type Artigo
dc.rights.license http://www.uk.sagepub.com/aboutus/openaccess.htm
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Fac Ciencias Med Santa Casa São Paulo
dc.contributor.institution Vrije Univ Amsterdam
dc.description.affiliation Universidade Federal de São Paulo, Dept Neurol & Neurosurg, Div Child Neurol, BR-04023900 São Paulo, Brazil
dc.description.affiliation Fac Ciencias Med Santa Casa São Paulo, Dept Radiol, São Paulo, Brazil
dc.description.affiliation Vrije Univ Amsterdam, Med Ctr, Dept Pediat & Child Neurol, Amsterdam, Netherlands
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Dept Neurol & Neurosurg, Div Child Neurol, BR-04023900 São Paulo, Brazil
dc.identifier.doi 10.1177/0883073810370897
dc.description.source Web of Science
dc.identifier.wos WOS:000284155600022



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