LEBERS PLUS - NEUROLOGICAL ABNORMALITIES IN PATIENTS WITH LEBERS HEREDITARY OPTIC NEUROPATHY
LEBERS PLUS - NEUROLOGICAL ABNORMALITIES IN PATIENTS WITH LEBERS HEREDITARY OPTIC NEUROPATHY
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DOI：
10.1136/jnnp.59.2.160
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发表时间：
1995-08-01
影响因子：
11
通讯作者：
SAVONTAUS, ML
中科院分区：
文献类型：
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作者：
NIKOSKELAINEN, EK;MARTTILA, RJ;SAVONTAUS, ML
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，表现在视神经以外的器官。为了评估神经系统受累，对38名男性和8名女性LHON患者进行了重新检查。根据mtDNA分析，患者被分为三组，即携带11778或3460突变的患者和没有这些原发突变的患者。59%的患者有神经系统异常，但三组之间没有显着差异。运动障碍是最常见的发现; 9例患者有持续的姿势性震颤，1例慢性运动性捆绑障碍，1例帕金森综合征伴肌张力障碍。4例患者有周围神经病变，没有其他明显的原因，2例患者有多发性硬化样综合征，在这两名患者的MRI显示的变化，脑室周围的白色的问题。7例患者发生胸椎后凸，其中5例有3460突变。在一名患者中，3460突变与脑干受累相关。提示各种运动障碍、多发性硬化样疾病和脊柱畸形可能与LHON发病有关。
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 tie 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.