Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene

Journal of Neurology

Volumn 259, Issue 2, 2012, Pages 292-296

  Tzoulis, Charalampos ^a,b   Tran, Gia Tuong ^a,b   Gjerde, Ivar Otto ^a   Aasly, Jan ^c   Neckelmann, Gesche ^a   Rydland, Jana ^c   Varga, Viktoria ^a   Wadel Andersen, Pia ^a   Bindoff, Laurence A ^a,b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

^c TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

Author keywords

Ataxia; DARS2; LBSL; Leukoencephalopathy; Mitochondrial

Indexed keywords

LACTIC ACID;

ADULT; ARTICLE; ATAXIA; BRAIN STEM; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DARS2 GENE; DIFFUSION WEIGHTED IMAGING; DISEASE COURSE; DISEASE SEVERITY; ELECTROMYOGRAPHY; EVOKED SOMATOSENSORY RESPONSE; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; LEUKOENCEPHALOPATHY; LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND ELEVATED LACTATE; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROGNOSIS; SPINAL CORD;

ADULT; AGE OF ONSET; ASPARTATE-TRNA LIGASE; BRAIN STEM; CHILD; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MUTATION; SIBLINGS; SPINAL CORD;

EID: 84856724745     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6176-9     Document Type: Article

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