Nikoskelainen E K, Marttila R J, Huoponen K, Juvonen V, Lamminen T, Sonninen P, Savontaus M L
Department of Ophthalmology, University of Turku, Finland.
J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):160-4. doi: 10.1136/jnnp.59.2.160.
Previous studies suggest that Leber's hereditary optic neuropathy (LHON) may be a systemic disorder with manifestations in organs other than the optic nerves. To evaluate nervous system involvement 38 men and eight women with LHON were re-examined. The patients were divided into three groups according to mtDNA analysis--namely, patients with the 11778 or with the 3460 mutation and patients without these primary mutations. Fifty nine per cent of patients had neurological abnormalities but there was no significant difference between the three groups. Movement disorders were the most common finding; nine patients had constant postural tremor, one chronic motor tic disorder, and one parkinsonism with dystonia. Four patients had peripheral neuropathy with no other evident cause. Two patients had a multiple sclerosis-like syndrome; in both patients MRI showed changes in the periventricular white matter. Thoracic kyphosis occurred in seven patients, five of whom had the 3460 mutation. In one patient the 3460 mutation was associated with involvement of the brain stem. It is suggested that various movement disorders, multiple sclerosis-like illness, and deformities of the vertebral column may associate pathogenetically with LHON.
以往的研究表明，Leber遗传性视神经病变（LHON）可能是一种全身性疾病，在视神经以外的器官也有表现。为评估神经系统受累情况，对38名男性和8名女性LHON患者进行了复查。根据线粒体DNA分析，患者被分为三组，即携带11778或3460突变的患者以及无这些原发性突变的患者。59%的患者存在神经学异常，但三组之间无显著差异。运动障碍是最常见的表现；9名患者有持续性姿势性震颤，1名患有慢性运动抽动障碍，1名患有帕金森病合并肌张力障碍。4名患者患有无其他明显病因的周围神经病。2名患者患有类似多发性硬化的综合征；两名患者的MRI均显示脑室周围白质有改变。7名患者出现胸椎后凸，其中5名携带3460突变。1名患者的3460突变与脑干受累有关。提示各种运动障碍、类似多发性硬化的疾病以及脊柱畸形可能在发病机制上与LHON相关。
