Familial opticoacoustic nerve degeneration and polyneuropathy

Publisher Website
Google Scholar
Abstract
The association of hereditary polyneuropathy, neurogenic deafness, and optic atrophy in 2 brothers is described. Their nephew has reduced motor nerve conduction velocities, areflexia, and neurogenic hypoacousis. This triad of deficits is discussed in relation to the spinocerebellar degenerations. The optic atrophy and associated severe visual deficit are believed to be due to retrobulbar neuritis in view of the normal electroretinogram. The mode of inheritance and certain laboratory features clearly distinguish this family from those with Refsum''s disease and suggest that the disorder belongs in the spectrum of spinocerebellar degenerations, the closest member being Charcot-Marie-Tooth disease.