Spinocerebellar Degeneration and Corneal Dystrophy (Corneal Cerebellar Syndrome; Corneal Dystrophy with Spinocerebellar Degeneration) 252f52c 252f52c 252f52c 252f52c 252f52c
General: Autosomal recessive; consanguineous parents.
Ocular: Corneal opacification; thickened Descemet membrane; degeneration of pannus; congenital cataracts; myopia; tilted optic disks.
Clinical: Mental retardation; progressive cerebellar abnormalities with variable dorsal column lesions; upper motor neuron involvement; histologic muscle abnormalities.
De Kaloustian VM, et al. Familial spinocerebellar degeneration with corneal dystrophy. Am J Med Genet 1985; 20: 325-339.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Mousa AR, et al. Autosomally inherited recessive spastic ataxia, macular dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs: report of a Bedouin family-a new syndrome. J Neurol Sci 1986; 76: 105-l21.
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