Hyperkinetic manifestations in superficial siderosis: evidence for pathogenic network disruption

Abstract

Superficial siderosis (SS) of central nervous system is a rare condition characterized by hemosiderin deposition diffusely involving supratentorial and infratentorial compartments. SS usually manifests with ataxia and sensorineural hearing loss. Basal ganglia are almost always spared by the degenerative process, and movement disorders are only rarely reported. We describe the case of an aged woman with apparently idiopathic SS presenting with cerebellar ataxia, hearing loss, and orofacial dyskinesias. Together with some previously reported patients affected by SS and presenting with dystonic manifestations, our case reinforces the current hypothesis supporting a wide network disruption, rather than a direct basal ganglia damage, as the likely underlying cause of some dystonic syndromes.