Optic Atrophy--Spastic Paraplegia Syndrome

Bruyn and Went (1964) described a degenerative disorder of the central nervous system associated with optic atrophy in at least 18 members of a family. One of these was female but the diagnosis was in some doubt in this case. The neurologic disorder showed features intermediate between those of hereditary spastic paraplegia (Strumpell-Lorrain) and Hallervorden-Spatz disease. The laboratory studies (Went, 1964) showed some peculiarities, e.g., abnormal oral glucose tolerance tests and mild red cell macrocytosis, but have thus far not contributed particularly to an understanding of the disorder.