A Case of Cerebellar Ataxia, with a Discussion of Classification

Abstract

Ever since the attempt of Pierre Marie to incorporate four families with ataxia into a single clinical syndrome, the cerebellar and spinocerebellar degenerations have proved a source of nosologic difficulty. Two major tendencies of classification have become manifest. One has been to establish separate groupings for each family that showed some slight variation of symptoms. The other has been to regard all familial neurologic illness as representative of differing manifestations of a broad spectrum of disease which includes the myopathies, peripheral neuropathies, hereditary spinal degenerations, spinocerebellar ataxias, and cerebellar degeneration.1,2Optic atrophy, retinitis pigmentosa, congenital deafness, congenital heart disease, polycystic kidneys and congenital hereditary hematuria have been reported in patients, or relatives of patients, with underlying neurologic disorder3-7and similar conditions have been observed in animals in both the hereditary and sporadic forms.8-13 The opportunity for detailed clinical study of a patient with evidence of a familial