Gellein Kristin, Skogholt Jon H, Aaseth Jan, Thoresen Gunnar B, Lierhagen Syverin, Steinnes Eiliv, Syversen Tore, Flaten Trond Peder
Department of Chemistry, Norwegian University of Science and Technology, NO-7491 Trondheim, Norway.
J Neurol Sci. 2008 Mar 15;266(1-2):70-8. doi: 10.1016/j.jns.2007.08.042. Epub 2007 Sep 27.
A hereditary neurological disease in a family in Norway has been reported recently. The disease, which we refer to as Skogholt's disease, is a demyelinating disorder of both the central and the peripheral nervous system with adult onset. We investigated whether changes in trace element concentrations could play a role in Skogholt's disease. Using high resolution inductively coupled plasma mass spectrometry, we determined 31 elements in cerebrospinal fluid (CSF), blood plasma and whole blood from these patients, multiple sclerosis patients and a control group. More than threefold increased levels of Cu and Fe, and a twofold increase in Zn were found in the CSF of Skogholt patients compared to controls. Several other significant differences in trace element levels were also found. The increased levels of Cu and Fe in CSF may indicate an active role of these metals in the pathogenesis of Skogholt's disease. Apparently, these metal ions are transferred into the CSF through their protein chelation, as raised protein levels were also seen. We suggest that redistribution of metals from transport proteins into vulnerable sites in the central (and peripheral) nervous system may initiate critical lesions.
挪威一个家族中最近报告了一种遗传性神经疾病。我们将这种疾病称为斯科格霍尔特病，它是一种中枢和周围神经系统的脱髓鞘疾病，成年发病。我们研究了微量元素浓度的变化是否可能在斯科格霍尔特病中起作用。使用高分辨率电感耦合等离子体质谱法，我们测定了这些患者、多发性硬化症患者和一个对照组的脑脊液（CSF）、血浆和全血中的31种元素。与对照组相比，斯科格霍尔特病患者脑脊液中的铜和铁水平增加了三倍多，锌水平增加了两倍。还发现了微量元素水平的其他几个显著差异。脑脊液中铜和铁水平的升高可能表明这些金属在斯科格霍尔特病的发病机制中起积极作用。显然，这些金属离子是通过它们与蛋白质的螯合作用转移到脑脊液中的，因为蛋白质水平也有所升高。我们认为，金属从转运蛋白重新分布到中枢（和周围）神经系统的易损部位可能引发关键病变。
