Familial spastic paraplegia, mental retardation, and precocious puberty.
Two brothers had progressive spastic paraplegia and precocious puberty develop due to Leydig's cell hyperplasia when they were 2 years old. Both later had moderate mental retardation. Family members displayed brisk lower-extremity reflexes and dysarthria in a pedigree that suggested autosomal dominant inheritance with variable expression. Precocious puberty has been associated with other neurologic syndromes. Its occurrence in two brothers with spastic paraplegia has not, to our knowledge, been previously reported.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D011629:Puberty, Precocious / Q000235:genetics*