以向下性眼球震颤为表现的家族性小脑共济失调。
Familial cerebellar ataxia presenting with down beat nystagmus.
作者信息
Schott G D
出版信息
J Med Genet. 1980 Apr;17(2):115-8. doi: 10.1136/jmg.17.2.115.
Abstract
Two brothers are described who during their fourth decade presented with isolated down beat nystagmus and later developed a progressive cerebellar ataxia. The nature of this unusual oculomotor disorder and its rare occurrence in other inherited conditions are discussed.
摘要
本文描述了两兄弟，他们在四十多岁时出现单纯的下跳性眼球震颤，后来发展为进行性小脑共济失调。本文讨论了这种不寻常的眼球运动障碍的性质及其在其他遗传疾病中的罕见发生情况。
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J Med Genet. 1980 Apr;17(2):115-8. doi: 10.1136/jmg.17.2.115.
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引用本文的文献
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本文引用的文献
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Ann Surg. 1951 Apr;133(4):496-502. doi: 10.1097/00000658-195104000-00008.
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Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations.
Arch Neurol. 1963 May;8:471-80. doi: 10.1001/archneur.1963.00460050021002.
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