A family with a dominant form of neuronal degeneration, marked clinically by ataxia, hyperreflexia, distal motor weakness, extrapyramidal rigidity, bulbar signs, and ophthalmoplegia has been followed for some years. Recent post-mortem study of 1 member revealed degeneration of the anterior horn cells, spino-cerebellar tracts, pons, dentate nucleus, substantia nigra, and oculomotor nuclei. This pattern of involvement appears to be a unique variant of neuronal degeneration, sharing features of both spino-cerebellar and extra-pyramidal system degenerations. Furthermore, the extrapyramidal signs of 3 affected family members have responded to a combination of dopaminergic and central anti-cholinergic medications; levodopa, amantidine hydrochloride, and trihexyphenidyl hydrochloride.
ASJC Scopus subject areas
- Clinical Neurology