Benign hereditary chorea: Clinical and neuroimaging features in an Italian family
Identifieur interne : 001E32 ( Main/Exploration ); précédent : 001E31; suivant : 001E33Benign hereditary chorea: Clinical and neuroimaging features in an Italian family
Auteurs : Elena Salvatore [Italie] ; Luigi Di Maio [Italie] ; Alessandro Filla [Italie] ; Alfonso M. Ferrara [Italie] ; Carlo Rinaldi [Italie] ; Francesco Saccà [Italie] ; Silvio Peluso [Italie] ; Paolo E. Macchia [Italie] ; Sabina Pappatà [Italie] ; Giuseppe De Michele [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-07-30.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- 2-deoxy-2-fluoroglucose, Adult, Chemoembolization, Therapeutic (methods), Chorea, Chorea (genetics), Chorea (pathology), Chorea (physiopathology), Codon, Terminator (genetics), Congenital, FDG‐PET, Family Health, Female, Fluorodeoxyglucose F18 (diagnostic use), Humans, Hypothyroidism, Italian, Italy (epidemiology), MRI, Magnetic Resonance Imaging (methods), Mutation (genetics), Nervous system diseases, Nuclear Proteins (genetics), Nuclear magnetic resonance imaging, Positron emission tomography, Serine (genetics), Thyroid gland, Transcription Factors (genetics), benign hereditary chorea, congenital hypothyroidism, thyroid transcription factor‐1.
- 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. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.23065
Affiliations:
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Ferrara</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Endocrinology and Molecular and Clinical Oncology, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Rinaldi, Carlo" sort="Rinaldi, Carlo" uniqKey="Rinaldi C" first="Carlo" last="Rinaldi">Carlo Rinaldi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Sacca, Francesco" sort="Sacca, Francesco" uniqKey="Sacca F" first="Francesco" last="Saccà">Francesco Saccà</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Macchia, Paolo E" sort="Macchia, Paolo E" uniqKey="Macchia P" first="Paolo E." last="Macchia">Paolo E. Macchia</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Endocrinology and Molecular and Clinical Oncology, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappatà">Sabina Pappatà</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Biostructure and Bioimaging Institute, CNR, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-07-30">2010-07-30</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1491">1491</biblScope><biblScope unit="page" to="1495">1495</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">374599091232E88E4C96D368C93853561FC62228</idno><idno type="DOI">10.1002/mds.23065</idno><idno type="ArticleID">MDS23065</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>2-deoxy-2-fluoroglucose</term><term>Adult</term><term>Chemoembolization, Therapeutic (methods)</term><term>Chorea</term><term>Chorea (genetics)</term><term>Chorea (pathology)</term><term>Chorea (physiopathology)</term><term>Codon, Terminator (genetics)</term><term>Congenital</term><term>FDG‐PET</term><term>Family Health</term><term>Female</term><term>Fluorodeoxyglucose F18 (diagnostic use)</term><term>Humans</term><term>Hypothyroidism</term><term>Italian</term><term>Italy (epidemiology)</term><term>MRI</term><term>Magnetic Resonance Imaging (methods)</term><term>Mutation (genetics)</term><term>Nervous system diseases</term><term>Nuclear Proteins (genetics)</term><term>Nuclear magnetic resonance imaging</term><term>Positron emission tomography</term><term>Serine (genetics)</term><term>Thyroid gland</term><term>Transcription Factors (genetics)</term><term>benign hereditary chorea</term><term>congenital hypothyroidism</term><term>thyroid transcription factor‐1</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Fluorodeoxyglucose F18</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Codon, Terminator</term><term>Nuclear Proteins</term><term>Serine</term><term>Transcription Factors</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Chemoembolization, Therapeutic</term><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Family Health</term><term>Female</term><term>Humans</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Congénital</term><term>Glucose(2-désoxy-2-fluor)</term><term>Hypothyroïdie</term><term>Imagerie RMN</term><term>Italien</term><term>Pathologie du système nerveux</term><term>Syndrome choréique</term><term>Thyroïde</term><term>Tomographie par émission de positons</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country></list><tree><country name="Italie"><noRegion><name sortKey="Salvatore, Elena" sort="Salvatore, Elena" uniqKey="Salvatore E" first="Elena" last="Salvatore">Elena Salvatore</name></noRegion><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name><name sortKey="Di Maio, Luigi" sort="Di Maio, Luigi" uniqKey="Di Maio L" first="Luigi" last="Di Maio">Luigi Di Maio</name><name sortKey="Ferrara, Alfonso M" sort="Ferrara, Alfonso M" uniqKey="Ferrara A" first="Alfonso M." last="Ferrara">Alfonso M. Ferrara</name><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><name sortKey="Macchia, Paolo E" sort="Macchia, Paolo E" uniqKey="Macchia P" first="Paolo E." last="Macchia">Paolo E. Macchia</name><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappatà">Sabina Pappatà</name><name sortKey="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name><name sortKey="Rinaldi, Carlo" sort="Rinaldi, Carlo" uniqKey="Rinaldi C" first="Carlo" last="Rinaldi">Carlo Rinaldi</name><name sortKey="Sacca, Francesco" sort="Sacca, Francesco" uniqKey="Sacca F" first="Francesco" last="Saccà">Francesco Saccà</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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