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

J. Lin, E.C. Faria, A.J. Da Rocha, M.R. Masruha, L.C.P. Vilanova, G.C. Scheper, M.S. van der Knaap

    Research output: Contribution to JournalArticleAcademicpeer-review

    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. © The Author(s) 2010.
    Original languageEnglish
    Pages (from-to)1425-1428
    JournalJournal of Child Neurology
    Volume25
    Issue number11
    DOIs
    Publication statusPublished - 2010

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