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

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Abstract
A syndrome of spastic paresis, mental retardation and glaucoma has been described only once previously (Heijbel and 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 diparesis, 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.