Benign hereditary chorea: clinical and neuroimaging features in an Italian family.
Identifieur interne : 001A22 ( PubMed/Checkpoint ); précédent : 001A21; suivant : 001A23Benign 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
Affiliations:
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pubmed:20544814Le document en format XML
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Ferrara</name></author><author><name sortKey="Rinaldi, Carlo" sort="Rinaldi, Carlo" uniqKey="Rinaldi C" first="Carlo" last="Rinaldi">Carlo Rinaldi</name></author><author><name sortKey="Sacca, Francesco" sort="Sacca, Francesco" uniqKey="Sacca F" first="Francesco" last="Saccà">Francesco Saccà</name></author><author><name sortKey="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name></author><author><name sortKey="Macchia, Paolo E" sort="Macchia, Paolo E" uniqKey="Macchia P" first="Paolo E" last="Macchia">Paolo E. 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Ferrara</name></author><author><name sortKey="Rinaldi, Carlo" sort="Rinaldi, Carlo" uniqKey="Rinaldi C" first="Carlo" last="Rinaldi">Carlo Rinaldi</name></author><author><name sortKey="Sacca, Francesco" sort="Sacca, Francesco" uniqKey="Sacca F" first="Francesco" last="Saccà">Francesco Saccà</name></author><author><name sortKey="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name></author><author><name sortKey="Macchia, Paolo E" sort="Macchia, Paolo E" uniqKey="Macchia P" first="Paolo E" last="Macchia">Paolo E. Macchia</name></author><author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappatà">Sabina Pappatà</name></author><author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Chemoembolization, Therapeutic (methods)</term><term>Chorea (genetics)</term><term>Chorea (pathology)</term><term>Chorea (physiopathology)</term><term>Codon, Terminator (genetics)</term><term>Family Health</term><term>Female</term><term>Fluorodeoxyglucose F18 (diagnostic use)</term><term>Humans</term><term>Italy (epidemiology)</term><term>Magnetic Resonance Imaging (methods)</term><term>Mutation (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Serine (genetics)</term><term>Transcription Factors (genetics)</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="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass></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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20544814</PMID><DateCreated><Year>2010</Year><Month>08</Month><Day>02</Day></DateCreated><DateCompleted><Year>2010</Year><Month>12</Month><Day>02</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>10</Issue><PubDate><Year>2010</Year><Month>Jul</Month><Day>30</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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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.</AbstractText><CopyrightInformation>(c) 2010 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Salvatore</LastName><ForeName>Elena</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Di Maio</LastName><ForeName>Luigi</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Filla</LastName><ForeName>Alessandro</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Ferrara</LastName><ForeName>Alfonso M</ForeName><Initials>AM</Initials></Author><Author ValidYN="Y"><LastName>Rinaldi</LastName><ForeName>Carlo</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Saccà</LastName><ForeName>Francesco</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Peluso</LastName><ForeName>Silvio</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Macchia</LastName><ForeName>Paolo E</ForeName><Initials>PE</Initials></Author><Author ValidYN="Y"><LastName>Pappatà</LastName><ForeName>Sabina</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>De Michele</LastName><ForeName>Giuseppe</ForeName><Initials>G</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov 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F18</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000176">diagnostic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D007558">Italy</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009687">Nuclear Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012694">Serine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014157">Transcription Factors</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>6</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>6</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>12</Month><Day>14</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23065</ArticleId><ArticleId IdType="pubmed">20544814</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Italie</li></country></list><tree><noCountry><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></noCountry><country name="Italie"><noRegion><name sortKey="Salvatore, Elena" sort="Salvatore, Elena" uniqKey="Salvatore E" first="Elena" last="Salvatore">Elena Salvatore</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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