A family case of hereditary olivopontocerebellar atrophy: features of diagnosis and course of the disease

Abstract

OPCA is a heterogeneous group of degenerative ataxias, the common feature of which is the occurrence of changes in the lower olives of the medulla oblongata, nuclei and transverse fibers of the pons, and cerebellar cortex. OPCA is not explicitly considered in general epidemiological surveys on spinocerebellar syndromes. It was described that in Cantabria (Spain) the prevalence ratios of autosomal-dominant cerebellar ataxia (ADCA) and idiopathic late-onset cerebellar ataxia (ILOCA) were 1.2 and 2.2 cases per 100,000, respectively. Some 60% of patients included in these groups had a «cerebellar-plus» syndrome and their computed tomographic (CT) or magnetic resonance imaging (MRI) scans revealed cerebellar and brainstem atrophy, allowing a presumptive diagnosis of OPCA. According to these estimations, the prevalence ratio of OPCA is about 2 per 100,000 (Berciano, 1991).