Wessel K, Moschner C, Wandinger K P, Kömpf D, Heide W
Department of Neurology, Medical University, Lübeck, Germany.
Arch Neurol. 1998 Jul;55(7):949-56. doi: 10.1001/archneur.55.7.949.
Oculomotor abnormalities have been reported in patients with degenerative ataxic disorders.
To assess the diagnostic sensitivity and specificity of oculomotor deficits in patients with Friedreich ataxia (FA), cerebellar atrophy (CA), and olivopontocerebellar atrophy (OPCA).
Neurology clinic at a university hospital in Lübeck, Germany.
Seven patients with FA, 9 with CA, and 10 with OPCA were studied. These patients were selected from an ongoing follow-up study.
Eye movements were recorded by electro-oculography; an extensive battery of quantitative tests was used.
A proven CAG repeat expansion on chromosome 6 or 14 was significantly associated with reduced saccadic eye velocity and vertical gaze palsy (P<.001, Mann-Whitney U test). All 6 patients with OPCA and slow saccades had an autosomal-dominant inheritance; 4 of them were proved to have spinocerebellar atrophy type 1. In 9 of these patients (4 with FA, 1 with CA, and 4 with OPCA), the genetic defect could not be identified. Saccadic dysmetria, impairment of smooth pursuit and optokinetic nystagmus, deficient suppression of the vestibulo-ocular reflex by either visual or otolith input, and pathological nystagmus were attributed to degenerative lesions in different parts of the cerebellum. However, these symptoms failed to clearly distinguish between the different groups of patients, whereas decreased vestibulo-ocular reflex gain, slow saccades, and vertical gaze palsy pointed to an extracerebellar manifestation of the degenerative disease, occurring only in patients with OPCA and FA.
In this prospective study, oculomotor disturbances were mainly related to cerebellar dysfunction. Only a few of them were caused by extracerebellar manifestations of the disease, such as slowing of saccades, which was characteristic for patients with OPCA of autosomal-dominant inheritance.
退行性共济失调性疾病患者中已报道存在眼球运动异常。
评估弗里德赖希共济失调（FA）、小脑萎缩（CA）和橄榄脑桥小脑萎缩（OPCA）患者眼球运动缺陷的诊断敏感性和特异性。
德国吕贝克大学医院的神经科门诊。
对7例FA患者、9例CA患者和10例OPCA患者进行了研究。这些患者选自一项正在进行的随访研究。
通过眼电图记录眼球运动；使用了一系列广泛的定量测试。
6号或14号染色体上经证实的CAG重复扩增与眼球扫视速度降低和垂直凝视麻痹显著相关（P<0.001，曼-惠特尼U检验）。所有6例OPCA且扫视缓慢的患者均为常染色体显性遗传；其中4例被证实患有1型脊髓小脑萎缩。在这些患者中的9例（4例FA、1例CA和4例OPCA）中，无法识别出基因缺陷。眼球扫视辨距不良、平稳跟踪和视动性眼球震颤受损、视觉或耳石输入对前庭眼反射的抑制不足以及病理性眼球震颤归因于小脑不同部位的退行性病变。然而，这些症状未能明确区分不同组的患者，而前庭眼反射增益降低、扫视缓慢和垂直凝视麻痹提示退行性疾病的小脑外表现，仅发生在OPCA和FA患者中。
在这项前瞻性研究中，眼球运动障碍主要与小脑功能障碍有关。其中只有少数是由疾病的小脑外表现引起的，如扫视减慢，这是常染色体显性遗传的OPCA患者的特征。
