Neuroimaging of a New Familial Disorder; Ataxia, Chorea, Seizures, and Dementia

Abstract

The neuroimaging findings observed in a family with a previously reported syndrome of progressive ataxia, chorea, seizures, and dementia include an unusual combination: (1) bilateral basal ganglia calcification limited to the globus pallidus on brain computed tomography; (2) abnormal focal and diffuse areas of increased signal intensity in the cerebral white matter on brain magnetic resonance imaging; and (3) mild to moderate degrees of atrophy of the cerebrum, cerebellum, and brainstem. These neuroimaging findings define further this new clinical entity.