Olivopontocerebellar atrophy in children: a report of seven cases in two families.

We present seven cases of progressive ataxia with onset in childhood along with pathological findings in three patients. One patient showed pure cerebellar degeneration and had no visual changes. His brother had classic changes of olivopontocerebellar atrophy with profound amyotrophy but no visual changes. A third family member had similar findings with pathological findings intermediate in severity between the first two. The mother and daughter, who are living, are ataxic and have macular degeneration. In a second pedigree, all patients affected in three generations were male, but the disease began during adulthood in the first two generations. Myoclonic seizures occurred in the majority of patients.