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Benign hereditary chorea is an autosomal dominant 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 presented with congenital hypothyroidism and neonatal respiratory distress. Imaging studies in 2 patients showed mild ventricular enlargement and empty sella at magnetic resonance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography.

Original publication

DOI

10.1002/mds.23065

Type

Journal article

Journal

Mov Disord

Publication Date

30/07/2010

Volume

25

Pages

1491 - 1496

Keywords

Adult, Chemoembolization, Therapeutic, Chorea, Codon, Terminator, Family Health, Female, Fluorodeoxyglucose F18, Humans, Italy, Magnetic Resonance Imaging, Mutation, Nuclear Proteins, Serine, Thyroid Nuclear Factor 1, Transcription Factors