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; Di Maio, L; Filla, Alessandro; Ferrara, ALFONSO MASSIMILIANO; Rinaldi, Carlo; Sacca', Francesco; Peluso, Silvio; Macchia, PAOLO EMIDIO; Pappatà, S; DE MICHELE, Giuseppe. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - STAMPA. - 25:10(2010), pp. 1491-1496.
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.File | Dimensione | Formato | |
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