Spinocerebellar Atrophy with Pupillary Paralysis
General: Autosomal dominant; rare.
Ocular: Absence of pupillary reaction to ligh 434j96e t or convergence.
Clinical: Spinocerebellar atrophy.
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/.
Sutherland JM, et al. Atrophic Spino-Cerebelleuse (HDSC) Familiale avec Mydriase Fixe. Rev Neurol 1963; 108: 439-42.
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