Nosology of congenital non-progressive cerebellar ataxia. Report on six cases in three families.

Abstract

Report on 3 siblings suffering from congenital non-progressive cerebellar ataxia. Intelligence is subnormal. Similar cases from the literature are reviewed. They can be considered as an autosomal recessive disorder. Two other brothers with severe motor and mental retardation and multiple cerebellar disfunctions are presented. Since they exhibit retinal colobo-mata this syndrome seems to be a new entity. One similar single case, the origin of which is unknown, is described. Actually several clinical entities, the mean feature of which is congenital cerebellar ataxia, can be delineated.