Adult hereditary cerebelloretinal degeneration

Abstract

A degenerative disorder affecting retina and cerebellum in 11 members of 3 generations of a kindred is described. The most common clinical signs were ataxia and blindness. Onset was usually after middle age, although 3 became disabled in adolescence. The clinical disorder presented by this family group is a form of adult cerebelloretinal degeneration, and the pedigree from this family suggests autosomal transmission. The underlying biochemical defect is not known. Cerebelloretinal degeneration represents a syndrome which is a part of the large group of spinocerebellar ataxias.