Spastic Paraplegia With Precocious Puberty

Raphaelson et al. (1983) described 2 brothers who had onset of precocious puberty (due to Leydig cell hyperplasia) and spastic paraplegia at the age of 2 years. Both later had moderate mental retardation. Relatives (2 sisters, father, paternal grandfather, paternal half brother) had brisk leg reflexes and dysarthria in a pattern suggesting autosomal dominant inheritance with variable expression.