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A family with hereditary, neuropathologically confirmed olivopontocerebellar atrophy (OPCA) associated with macular degeneration is described. The mode of inheritance was autosomal dominant. The first symptom was insidious, progressive visual loss caused by macular degeneration. Another early sign was slow saccades. Some years after the visual symptoms, gradually progressing cerebellar dysfunction and pyramidal signs developed. Computed tomography of the brain indicated cerebellar and pontine atrophy. Finally the patients were blind, due to a severe chorioretinal atrophy, and disabled because af motor dysfunction. The present study, together with a review of other reported families with OPCA associated with macular degeneration, suggests that this disorder is a specific and clinically recognizable subtype of OPCA.
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