Olivopontocerebellar atrophy with dementia, blindness, and chorea. Response to baclofen

Olivopontocerebellar atrophy is a hereditary disorder that has variable clinical manifestations. Five types have been described, as well as a sixth that contains sporadic cases. This report describes a family with three affected members who demonstrate a composite of types III and V. Their features include progressive spasticity, ataxia, dementia, visual loss with retinal pigmentation, dysarthria, ophthalmoplegia, and chorea. This family might represent an additional category of the disease. In the two family members who developed chorea, baclofen resulted in marked improvement with abolition of the choreiform movements. Response has been sustained for several years in the mother and for eight months in the daughter. Neither has experienced any return of chorea while receiving treatment. When attempts were made to discontinue baclofen, choreiform movements returned promptly and with their original severity. Baclofen, a gamma-aminobutyric acid analogue, may be useful in the treatment of other forms of chorea as well.