Spastic Paraplegia, Optic Atrophy, And Dementia

Rothner et al. (1976) described affected mother and 5 of her 6 children. The mother had onset of trouble walking at age 30 and by age 37 had pale optic discs, constricted visual fields, and early dementia in addition to the signs of spastic paraplegia. By the age of 42 she could not manage her home, mainly because of dementia. The onset of disease in the children (3 males, 2 females) was as early as age 7. See 311100 for a possible X-linked optic atrophy--spastic paraplegia syndrome.