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.

Benign hereditary chorea: clinical and neuroimaging features in an Italian family.

SALVATORE, ELENA;FILLA, ALESSANDRO;FERRARA, ALFONSO MASSIMILIANO;RINALDI, CARLO;SACCA', FRANCESCO;PELUSO, SILVIO;MACCHIA, PAOLO EMIDIO;DE MICHELE, GIUSEPPE
2010

Abstract

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/371063
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