Abstract: Benign hereditary chorea is an autosomal domi- nant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. A child in the third generation pre- sented with congenital hypothyroidism and neonatal respi- ratory distress. Imaging studies in 2 patients showed mild ventricular enlargement and empty sella at magnetic reso- nance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography
