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Benign hereditary chorea: Clinical and neuroimaging features in an Italian family

✍ Scribed by Elena Salvatore; Luigi Di Maio; Alessandro Filla; Alfonso M. Ferrara; Carlo Rinaldi; Francesco Saccà; Silvio Peluso; Paolo E. Macchia; Sabina Pappatà; Giuseppe De Michele

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
401 KB
Volume
25
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

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. © 2010 Movement Disorder Society

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