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

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

Author Lin, Jaime Autor UNIFESP Google Scholar
Faria, Eliete Chiconelli Google Scholar
Da Rocha, Antonio Jose Google Scholar
Masruha, Marcelo Rodrigues Google Scholar
Pereira Vilanova, Luiz Celso Google Scholar
Scheper, Gert C. Google Scholar
Van der Knaap, Marjo S. Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Fac Ciencias Med Santa Casa São Paulo
Vrije Univ Amsterdam
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.
Keywords leukoencephalopathy
brainstem
spinal cord
lactate
Language English
Date 2010-11-01
Published in Journal of Child Neurology. Thousand Oaks: Sage Publications Inc, v. 25, n. 11, p. 1425-1428, 2010.
ISSN 0883-0738 (Sherpa/Romeo, impact factor)
Publisher Sage Publications Inc
Extent 1425-1428
Origin http://dx.doi.org/10.1177/0883073810370897
Access rights Closed access
Type Article
Web of Science ID WOS:000284155600022
URI http://repositorio.unifesp.br/handle/11600/33071

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