Neuro-Quiz

• Literatur

• 1 Scheper GC, van der Klok T, van Andel RJ et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007; 39: 534-539
• 2 Labauge P, Roullet E, Boespflug-Tanguy O et al. Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression. Eur Neurol 2007; 58: 59-61
• 3 Petzold GC, Bohner G, Klingebiel R et al. Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate. J Neurol Neurosurg Psychiatry 2006; 77: 889-891
• 4 van der Knaap MS, van der Voorn P, Barkhof F et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2003; 53: 252-258
• 5 Uluc K, Baskan O, Yildirim KA et al. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. J Neurol Sci 2008; 273: 118-122
• 6 Steenweg ME, van Berge L, van Berkel CGM et al. Early-onset LBSL: how severe does it get?. Neuropediatrics 2012; 43: 332-338
• 7 Steenweg ME, Pouwels PJ, Wolf NI et al. Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. Brain 2011; 134: 3333-3341
• 8 van Berge L, Dooves S, van Berkel CGM et al. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. Biochem J 2012; 441: 955-962
• 9 Synofzik M, Schicks J, Lindig T et al. Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet 2011; 48: 713-715