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

Lin, Jaime [UNIFESP]; Faria, Eliete Chiconelli; Da Rocha, Antonio Jose; Masruha, Marcelo Rodrigues; Pereira Vilanova, Luiz Celso; Scheper, Gert C.; Van der Knaap, Marjo S.

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

Data

2010-11-01

Autores

Lin, Jaime

Faria, Eliete Chiconelli

Da Rocha, Antonio Jose

Masruha, Marcelo Rodrigues

Pereira Vilanova, Luiz Celso

Mostrar mais

Tipo

Artigo

Resumo

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.

Citação

Journal of Child Neurology. Thousand Oaks: Sage Publications Inc, v. 25, n. 11, p. 1425-1428, 2010.