Benign hereditary chorea: clinical and neuroimaging features in an Italian family.
Identifieur interne : 002B98 ( Ncbi/Merge ); précédent : 002B97; suivant : 002B99Benign hereditary chorea: clinical and neuroimaging features in an Italian family.
Auteurs : Elena Salvatore [Italie] ; Luigi Di Maio ; Alessandro Filla ; Alfonso M. Ferrara ; Carlo Rinaldi ; Francesco Saccà ; Silvio Peluso ; Paolo E. Macchia ; Sabina Pappatà ; Giuseppe De MicheleSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
Descripteurs français
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- Adult, Chemoembolization, Therapeutic (methods), Chorea (genetics), Chorea (pathology), Chorea (physiopathology), Codon, Terminator (genetics), Family Health, Female, Fluorodeoxyglucose F18 (diagnostic use), Humans, Italy (epidemiology), Magnetic Resonance Imaging (methods), Mutation (genetics), Nuclear Proteins (genetics), Serine (genetics), Transcription Factors (genetics).
- MESH :
- chemical , diagnostic use : Fluorodeoxyglucose F18.
- chemical , genetics : Codon, Terminator, Nuclear Proteins, Serine, Transcription Factors.
- geographic , epidemiology : Italy.
- genetics : Chorea, Mutation.
- methods : Chemoembolization, Therapeutic, Magnetic Resonance Imaging.
- pathology : Chorea.
- physiopathology : Chorea.
- Adult, Family Health, Female, Humans.
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.
DOI: 10.1002/mds.23065
PubMed: 20544814
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pubmed:20544814Le document en format XML
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<term>Chorea (physiopathology)</term>
<term>Codon, Terminator (genetics)</term>
<term>Family Health</term>
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<front><div type="abstract" xml:lang="en">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.</div>
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