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.
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Selected References
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- Alpert J. N. Downbeat nystagmus due to anticonvulsant toxicity. Ann Neurol. 1978 Nov;4(5):471–473. doi: 10.1002/ana.410040516. [DOI] [PubMed] [Google Scholar]
- BULL J. W., NIXON W. L., PRATT R. T. The radiological criteria and familial occurrence of primary basilar impression. Brain. 1955;78(2):229–247. doi: 10.1093/brain/78.2.229. [DOI] [PubMed] [Google Scholar]
- Baloh R. W., Konrad H. R., Honrubia V. Vestibulo-ocular function in patients with cerebellar atrophy. Neurology. 1975 Feb;25(2):160–168. doi: 10.1212/wnl.25.2.160. [DOI] [PubMed] [Google Scholar]
- Cogan D. G. Down-beat nystagmus. Arch Ophthalmol. 1968 Dec;80(6):757–768. doi: 10.1001/archopht.1968.00980050759015. [DOI] [PubMed] [Google Scholar]
- FARMER T. W., MUSTIAN V. M. Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations. Arch Neurol. 1963 May;8:471–480. doi: 10.1001/archneur.1963.00460050021002. [DOI] [PubMed] [Google Scholar]
- Hart J. C., Sanders M. D. Down beat nystagmus. Trans Ophthalmol Soc U K. 1970;90:483–490. [PubMed] [Google Scholar]
- Marmor M. F. Hereditary vertical nystagmus. Arch Ophthalmol. 1973 Aug;90(2):107–111. doi: 10.1001/archopht.1973.01000050109007. [DOI] [PubMed] [Google Scholar]
- SCOVILLE W. B., SHERMAN I. J. Platybasia, report of 10 cases with comments on familial tendency, a special diagnostic sign, and the end results of operation. Ann Surg. 1951 Apr;133(4):496–502. doi: 10.1097/00000658-195104000-00008. [DOI] [PMC free article] [PubMed] [Google Scholar]
- SPILLANE J. D., PALLIS C., JONES A. M. Developmental abnormalities in the region of the foramen magnum. Brain. 1957 Mar;80(1):11–48. doi: 10.1093/brain/80.1.11. [DOI] [PubMed] [Google Scholar]
- Spira P. J., McLeod J. G., Evans W. A. A spinocerebellar degeneration with X-linked inheritance. Brain. 1979 Mar;102(1):27–41. doi: 10.1093/brain/102.1.27. [DOI] [PubMed] [Google Scholar]
- TYRER J. H., SUTHERLAND J. M. The primary spino-cerebellar atrophies and their associated defects, with a study of the foot deformity. Brain. 1961 Jun;84:289–300. doi: 10.1093/brain/84.2.289. [DOI] [PubMed] [Google Scholar]
- Zee D. S., Friendlich A. R., Robinson D. A. The mechanism of downbeat nystagmus. Arch Neurol. 1974 Mar;30(3):227–237. doi: 10.1001/archneur.1974.00490330035006. [DOI] [PubMed] [Google Scholar]
- Zee D. S., Yee R. D., Cogan D. G., Robinson D. A., Engel W. K. Ocular motor abnormalities in hereditary cerebellar ataxia. Brain. 1976 Jun;99(2):207–234. doi: 10.1093/brain/99.2.207. [DOI] [PubMed] [Google Scholar]
