Benign hereditary chorea: clinical and neuroimaging features in an Italian family.
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.
Salvatore
Elena
E
Department of Neurological Sciences, Federico II University, Naples, Italy.
Di Maio
Luigi
L
Filla
Alessandro
A
Ferrara
Alfonso M
AM
Rinaldi
Carlo
C
Saccà
Francesco
F
Peluso
Silvio
S
Macchia
Paolo E
PE
Pappatà
Sabina
S
De Michele
Giuseppe
G
D000328:Adult; D016461:Chemoembolization, Therapeutic / Q000379:methods; D002819:Chorea / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018388:Codon, Terminator / Q000235:genetics; D005192:Family Health; D005260:Female; D019788:Fluorodeoxyglucose F18; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D012694:Serine / Q000235:genetics; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics*
D018388:Codon, Terminator; C000614412:NKX2-1 protein, human; D009687:Nuclear Proteins; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors; D019788:Fluorodeoxyglucose F18; D012694:Serine