Clinical Differentiation of Genetically Proven Benign Hereditary Chorea and Myoclonus-Dystonia
Identifieur interne : 004339 ( Main/Merge ); précédent : 004338; suivant : 004340Clinical Differentiation of Genetically Proven Benign Hereditary Chorea and Myoclonus-Dystonia
Auteurs : Friedrich Asmus [Allemagne] ; Anita Devlin [Royaume-Uni] ; Marita Munz [Allemagne] ; Alexander Zimprich [Autriche] ; Thomas Gasser [Allemagne] ; Patrick F. Chinnery [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
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Abstract
Because of clinical similarities, benign hereditary chorea and myoclonus-dystonia (DYT11) might be confused. No systematic comparisons of genetically proven cases with thyroid transcription factor-1 (TITF-1) and ε-sarcoglycan (SGCE) mutations have been performed to date. Three index patients and one index patients' daughter underwent genetic analysis of the TITF-1 and the SGCE gene. The movement disorders of all patients were assessed by video review. A new splicing mutation (376-2A>C) of the TITF-1 gene was detected in a mother and her daughter. Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V). Both TITF-1 mutation carriers presented with infancy-onset, nonprogressive chorea, which responded to alcohol intake. In addition, dystonia of the neck and trunk as well as fleeting jerky movements of the distal limbs could be observed. The mutually exclusive appearance of lightning-like myoclonic jerks triggered by action in SGCE mutation carriers and of continuous chorea of all limbs in TITF-1 mutation carriers phenotypically discriminated both genetic disorders. TITF-1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Clinical Differentiation of Genetically Proven Benign Hereditary Chorea and Myoclonus-Dystonia</title><author><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Devlin, Anita" sort="Devlin, Anita" uniqKey="Devlin A" first="Anita" last="Devlin">Anita Devlin</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Paediatric Neurology, Newcastle General Hospital</s1><s2>Newcastle upon Tyne</s2><s3>GBR</s3><sZ>2 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Newcastle upon Tyne</wicri:noRegion></affiliation></author><author><name sortKey="Munz, Marita" sort="Munz, Marita" uniqKey="Munz M" first="Marita" last="Munz">Marita Munz</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, University Hospital</s1><s2>Vienna</s2><s3>AUT</s3><sZ>4 aut.</sZ></inist:fA14><country>Autriche</country><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. 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Chinnery</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Institute of Human Genetics and Mitochondrial Research Group, M4014, University of Newcastle upon Tyne</s1><s2>Newcastle upon Tyne</s2><s3>GBR</s3><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Newcastle upon Tyne</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chorea</term><term>Dystonia</term><term>Myoclonus</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du système nerveux</term><term>Syndrome choréique</term><term>Myoclonie</term><term>Dystonie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Because of clinical similarities, benign hereditary chorea and myoclonus-dystonia (DYT11) might be confused. No systematic comparisons of genetically proven cases with thyroid transcription factor-1 (TITF-1) and ε-sarcoglycan (SGCE) mutations have been performed to date. Three index patients and one index patients' daughter underwent genetic analysis of the TITF-1 and the SGCE gene. The movement disorders of all patients were assessed by video review. A new splicing mutation (376-2A>C) of the TITF-1 gene was detected in a mother and her daughter. Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V). Both TITF-1 mutation carriers presented with infancy-onset, nonprogressive chorea, which responded to alcohol intake. In addition, dystonia of the neck and trunk as well as fleeting jerky movements of the distal limbs could be observed. The mutually exclusive appearance of lightning-like myoclonic jerks triggered by action in SGCE mutation carriers and of continuous chorea of all limbs in TITF-1 mutation carriers phenotypically discriminated both genetic disorders. TITF-1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Autriche</li><li>Royaume-Uni</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li><li>Vienne (Autriche)</li></region><settlement><li>Tübingen</li><li>Vienne (Autriche)</li></settlement></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name></region><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Munz, Marita" sort="Munz, Marita" uniqKey="Munz M" first="Marita" last="Munz">Marita Munz</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Devlin, Anita" sort="Devlin, Anita" uniqKey="Devlin A" first="Anita" last="Devlin">Anita Devlin</name></noRegion><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name></country><country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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