Tapetoretinal Degeneration With Ataxia

There appear to be several types. In one variety the ataxia is of the Marie type. Although the inheritance is usually dominant, recessive pedigrees have been observed (Walsh, 1957). In a second form the ataxia is of Friedreich type (229300). The inheritance is recessive. Mixed or more complex types of neurologic involvement with ataxia occur in a third type. As one would expect, this is a heterogeneous category. Refsum disease (266500) and abetalipoproteinemia (200100) give this combination of findings. See also ophthalmoplegia-plus (530000) and olivopontocerebellar atrophy III (164500).