Spastic Paresis, Glaucoma, And Mental Retardation

Heijbel and Jagell (1981) described 3 sibs (2 males, 1 female) with what they considered to be a new syndrome of spastic paraplegia, glaucoma, and mental retardation. Another related female was also affected. The 3 sibs had 4 other sibs with essential myoclonus. Chenevix-Trench et al. (1986) described a second sibship from a consanguineous marriage in which 3 brothers were affected with the triad of spastic paresis, mental retardation, and glaucoma. The parents were first cousins once removed.