A sister and brother developed a progressive syndrome comprising bulbar palsy, supranuclear ophthalmoplegia, facial impassivity, and cerebellar ataxia together with a mixed pyramidal and extrapyramidal deficit in the limbs, in the fourth decade of life. Their parents were unaffected and inheritance was probably autosomal recessive. The female patient, who presented initially with bulbar and extrapyramidal dysfunction, was found to have cerebellar cortical atrophy at necropsy. The basal ganglia and brainstem were normal.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.