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Benign hereditary chorea: Clinical and neuroimaging features in an Italian family
Author(s) -
Salvatore Elena,
Di Maio Luigi,
Filla Alessandro,
Ferrara Alfonso M.,
Rinaldi Carlo,
Saccà Francesco,
Peluso Silvio,
Macchia Paolo E.,
Pappatà Sabina,
De Michele Giuseppe
Publication year - 2010
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.23065
Subject(s) - chorea , neuroimaging , magnetic resonance imaging , medicine , basal ganglia , pediatrics , pathology , psychology , neuroscience , central nervous system , psychiatry , radiology , disease
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