Spastic paresis, glaucoma and mental retardation--a probable autosomal recessive syndrome?

Abstract

A syndrome of spastic paresis, mental retardation and glaucoma has been described only once previously (Heijbel & Jagell 1981). We describe three brothers, products of a marriage between first cousins once-removed, who appear to have the same syndrome. The brothers are not dysmorphic but they have slowly progressive spastic paresis, moderate mental retardation and glaucoma with secondary cataracts. Documentation of a second consanguineous kindred with this triad of features supports the view that this is a distinct entity with an autosomal recessive mode of inheritance.