title: 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.
mesh_terms: D003241:Consanguinity; D005808:Genes, Recessive; D005901:Glaucoma / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000235:genetics; D010243:Paralysis / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome