al-Din A S, al-Kurdi A, al-Salem M K, al-Nassar K E, al-Zuhair A, Rudwan M A, Ayish I, Barghouti J A, Khaffaji S, Hamawi T
Faculty of Medicine, Kuwait University.
J Neurol Sci. 1990 May;96(2-3):191-205. doi: 10.1016/0022-510x(90)90132-7.
An Arab family with an autosomal recessive form of spinocerebellar degeneration with slow eye movements is reported. Hitherto all the reported cases were either sporadic or of autosomal dominant inheritance. Associated are progressive intellectual impairment and extrapyramidal dysfunction as well as peripheral neuropathy and skeletal abnormalities. Muscle biopsy revealed non-specific mitochondrial abnormalities. The spectrum of eye movement abnormalities is discussed and the literature is reviewed. It is concluded that the hallmark of this syndrome (slow or even absent saccades) is one of a group of oculomotor abnormalities, all being characterized by delayed initiation and slow velocity. The syndrome seems to be related to the olivopontocerebellar degenerations, but differs in that there is in addition selective degeneration of certain tracts and nuclei in the mesencephalon and probably more rostral structures.
本文报道了一个患有常染色体隐性遗传性脊髓小脑变性且伴有眼球运动迟缓的阿拉伯家族。迄今为止，所有已报道的病例均为散发性或常染色体显性遗传。相关症状包括进行性智力障碍、锥体外系功能障碍、周围神经病变和骨骼异常。肌肉活检显示非特异性线粒体异常。本文讨论了眼球运动异常的范围并回顾了相关文献。结论是，该综合征的标志（扫视缓慢甚至缺失）是一组眼球运动异常之一，所有这些异常的特征都是启动延迟和速度缓慢。该综合征似乎与橄榄脑桥小脑变性有关，但不同之处在于，中脑某些束和核以及可能更靠前的结构存在选择性变性。
