title: Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene.
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.
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil. linjaime@yahoo.com
authors.forename: Jaime
authors.initials: J
authors.lastname: Lin
authors.forename: Eliete
authors.initials: E
authors.lastname: Chiconelli Faria
authors.forename: Antônio José
authors.initials: AJ
authors.lastname: Da Rocha
authors.forename: Marcelo
authors.initials: M
authors.lastname: Rodrigues Masruha
authors.forename: Luiz Celso
authors.initials: LC
authors.lastname: Pereira Vilanova
authors.forename: Gert C
authors.initials: GC
authors.lastname: Scheper
authors.forename: Marjo S
authors.initials: MS
authors.lastname: Van der Knaap
mesh_terms: D000293:Adolescent; D001226:Aspartate-tRNA Ligase / Q000235:genetics*; D001933:Brain Stem / Q000473:pathology*; D006801:Humans; D019344:Lactic Acid / Q000134:cerebrospinal fluid*; D056784:Leukoencephalopathies / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D013116:Spinal Cord / Q000473:pathology*
chemical_list: D019344:Lactic Acid; D001226:Aspartate-tRNA Ligase