Kalman B, Rodriguez-Valdez J L, Bosch U, Lublin F D
Department of Neurology, Thomas Jefferson University, Philadelphia, USA.
Mult Scler. 1997 Jan;2(6):279-82. doi: 10.1177/135245859700200603.
Previous case reports demonstrated the presence of Leber's hereditary optic neuropathy (LHON) associated mitochondrial (mt) DNA mutations in patients presenting with prominent optic neuritis (PON). By screening the mtDNA, we have excluded the presence of these mutations in 22 patients with PON, indicating that the frequency of these mutations is less than 4.5% in our selected patient population. Reviewing the clinical data of these patients revealed that severe optic nerve atrophy developed in association with both the benign and the severely disabling form of Multiple Sclerosis (MS). This observation suggests that the prominent feature of ON in MS may be related to local factors or to a selective vulnerability of the optic nerve in some patients. However, it also may be consequence of a deleterious process associated with inflammatory demyelination in the central nervous system (CNS) of another, genetically probably distinct subgroup of severely disabled patients.
先前的病例报告显示，患有显著视神经炎（PON）的患者存在与Leber遗传性视神经病变（LHON）相关的线粒体（mt）DNA突变。通过对mtDNA进行筛查，我们排除了22例PON患者中存在这些突变的情况，这表明在我们选定的患者群体中，这些突变的发生率低于4.5%。回顾这些患者的临床数据发现，严重视神经萎缩与多发性硬化症（MS）的良性和严重致残形式均有关联。这一观察结果表明，MS中ON的突出特征可能与局部因素有关，或者与某些患者视神经的选择性易损性有关。然而，它也可能是另一个遗传上可能不同的严重残疾患者亚组中枢神经系统（CNS）中与炎症性脱髓鞘相关的有害过程的结果。
