DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

  title={DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.},
  author={Pirjo Isohanni and Tarja T Linnankivi and Jana Buzkov{\'a} and T L{\"o}nnqvist and Helena Pihko and Leena Valanne and Pentti J. Tienari and Irina Elovaara and Tuula A Pirttil{\"a} and Mauri Reunanen and Keijo Koivisto and Sanna Marjavaara and Anu Suomalainen},
  journal={Journal of medical genetics},
  volume={47 1},
BACKGROUND Leucoencephalopathy with brain stem and spinal cord involvement and high brain lactate (LBSL) was first defined by characteristic magnetic resonance imaging and spectroscopic findings. The clinical features include childhood or juvenile onset slowly progressive ataxia, spasticity, and dorsal column dysfunction, occasionally accompanied by learning difficulties. Mutations in DARS2, encoding mitochondrial aspartyl-tRNA synthetase, were recently shown to cause LBSL. The signs and… CONTINUE READING


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