DARS2 mutations in mitochondrial leukoencephalopathy and multiple sclerosis

P Isohanni (1) , T Linnankivi (2) , J Buzkova (1) , T Lönnqvist (2) , H Pihko (2) , L Valanne (3) , P J Tienari (2) , I Elovaara (4) , T Pirttilä (5) , M Reunanen (6) , K Koivisto (7) , S Marjavaara (1) , A Suomalainen (1)

1 Research Programs [Helsinki]
2 Pediatric Neurology [Helsinki]
3 HUS-MIC - HUS Medical Imaging Center [Helsinki]
4 Department of Neurology, University of Tampere and Tampere University Hospital
5 Department of Neurology and Neuroscience, University of Kuopio and Kuopio University Hospital
6 Department Neurology, University of Oulu and Oulu University Hospital
7 Central Hospital of Seinäjoki

Leukoencephalopathy with brain stem and spinal cord involvement and high brain lactate (LBSL) was first defined by characteristic MRI 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 , encoding mitochondrial aspartyl-tRNA synthetase, were recently shown to cause LBSL. The signs and symptoms show some overlap with the most common leukoencephalopathy of young adults, multiple sclerosis (MS).

Mots clés: Molecular genetics; Neurology; Multiple sclerosis; Neurosciences

P Isohanni, T Linnankivi, J Buzkova, T Lönnqvist, H Pihko, et al.. DARS2 mutations in mitochondrial leukoencephalopathy and multiple sclerosis. Journal of Medical Genetics, 2010, 47 (1), pp.66. ⟨10.1136/jmg.2009.068221⟩. ⟨hal-00552703⟩