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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.

DOI:10.1136/jmg.17.2.115
PMID:7381864
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048514/
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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Familial cerebellar ataxia presenting with down beat nystagmus.以向下性眼球震颤为表现的家族性小脑共济失调。
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

1
Monocular downbeat nystagmus.
J Neurol. 1985;232(2):99-101. doi: 10.1007/BF00313908.

本文引用的文献

1
Platybasia, report of 10 cases with comments on familial tendency, a special diagnostic sign, and the end results of operation.扁平颅底：10例报告及关于家族倾向、一种特殊诊断体征和手术最终结果的评论
Ann Surg. 1951 Apr;133(4):496-502. doi: 10.1097/00000658-195104000-00008.
2
Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations.
Arch Neurol. 1963 May;8:471-80. doi: 10.1001/archneur.1963.00460050021002.
3
The primary spino-cerebellar atrophies and their associated defects, with a study of the foot deformity.原发性脊髓小脑萎缩及其相关缺陷，附足部畸形研究
Brain. 1961 Jun;84:289-300. doi: 10.1093/brain/84.2.289.
4
Developmental abnormalities in the region of the foramen magnum.枕骨大孔区域的发育异常。
Brain. 1957 Mar;80(1):11-48. doi: 10.1093/brain/80.1.11.
5
The radiological criteria and familial occurrence of primary basilar impression.原发性颅底凹陷症的放射学标准及家族性发病情况
Brain. 1955;78(2):229-47. doi: 10.1093/brain/78.2.229.
6
Down-beat nystagmus.
Arch Ophthalmol. 1968 Dec;80(6):757-68. doi: 10.1001/archopht.1968.00980050759015.
7
Down beat nystagmus.下跳性眼球震颤
Trans Ophthalmol Soc U K (1962). 1970;90:483-90.
8
The mechanism of downbeat nystagmus.下跳性眼球震颤的机制。
Arch Neurol. 1974 Mar;30(3):227-37. doi: 10.1001/archneur.1974.00490330035006.
9
Hereditary vertical nystagmus.遗传性垂直性眼球震颤
Arch Ophthalmol. 1973 Aug;90(2):107-11. doi: 10.1001/archopht.1973.01000050109007.
10
Vestibulo-ocular function in patients with cerebellar atrophy.小脑萎缩患者的前庭眼功能
Neurology. 1975 Feb;25(2):160-8. doi: 10.1212/wnl.25.2.160.