Kim Sung-Hee, Akbarkhodjaeva Ziyoda Abdulkhaevna, Jung Ileok, Kim Ji-Soo
Department of Neurology, Kyoungpook National University School of Medicine, Daegu, Korea.
Department of Nervous diseases, Tashkent Medical Academy, Tashkent, Uzbekistan.
Neurol Sci. 2016 Jul;37(7):1159-62. doi: 10.1007/s10072-016-2577-y. Epub 2016 Apr 13.
Studying eye movements and vestibular function would provide insights into brain networks that are vulnerable in mitochondrial disorders. We sought eye movement and vestibular abnormalities in three Korean patients with a mitochondrial A3243G point mutation. The patients suffered from vertigo and imbalance during the stroke-like and seizure episodes from lesions involving the posterior cerebral cortex, which were accompanied by bilateral saccadic hypermetria and horizontal gaze-evoked nystagmus. Furthermore, two patients showed bilateral impairments of the vestibulo-ocular reflex during head impulses for the horizontal and posterior canals on both sides in the absence of caloric paresis. Cerebellar atrophy was prominent on MRIs in two patients and was less marked in the other patient. These findings imply that the cerebellum is susceptible to neuronal energy deficiency due to mitochondrial A3243G point mutation.
研究眼球运动和前庭功能将有助于深入了解线粒体疾病中易受损的脑网络。我们在三名患有线粒体A3243G点突变的韩国患者中寻找眼球运动和前庭异常。这些患者在涉及大脑后皮质的病变引起的类中风和癫痫发作期间出现眩晕和失衡，同时伴有双侧扫视性远视和水平凝视诱发的眼球震颤。此外，两名患者在双侧水平半规管和后半规管进行摇头试验时，前庭眼反射出现双侧损害，且无冷热试验麻痹。两名患者的磁共振成像显示小脑萎缩明显，另一名患者则较轻。这些发现表明，小脑易受线粒体A3243G点突变导致的神经元能量缺乏的影响。
