Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
Identifieur interne : 001D99 ( Ncbi/Curation ); précédent : 001D98; suivant : 001E00Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
Auteurs : Friedrich Asmus [Allemagne] ; Anita Devlin ; Marita Munz ; Alexander Zimprich ; Thomas Gasser ; Patrick F. ChinnerySource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adolescent, Arginine (genetics), Child, Chorea (diagnosis), Chorea (genetics), DNA Mutational Analysis, Dystonic Disorders (complications), Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Exons (genetics), Family Health, Female, Genotype, Glycine (genetics), Humans, Male, Mutation, Myoclonus (etiology), Myoclonus (genetics), Nuclear Proteins (genetics), Sarcoglycans (genetics), Transcription Factors (genetics), Valine (genetics).
- MESH :
- chemical , genetics : Arginine, Glycine, Nuclear Proteins, Sarcoglycans, Transcription Factors, Valine.
- complications : Dystonic Disorders.
- diagnosis : Chorea, Dystonic Disorders.
- etiology : Myoclonus.
- genetics : Chorea, Dystonic Disorders, Exons, Myoclonus.
- Adolescent, Child, DNA Mutational Analysis, Family Health, Female, Genotype, Humans, Male, Mutation.
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 epsilon-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.
DOI: 10.1002/mds.21692
PubMed: 17702043
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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"><nlm:affiliation>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany. friedrich.asmus@uni-tuebingen.de</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen</wicri:regionArea><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></author><author><name sortKey="Munz, Marita" sort="Munz, Marita" uniqKey="Munz M" first="Marita" last="Munz">Marita Munz</name></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21692</idno><idno type="RBID">pubmed:17702043</idno><idno type="pmid">17702043</idno><idno type="wicri:Area/PubMed/Corpus">002560</idno><idno type="wicri:Area/PubMed/Curation">002560</idno><idno type="wicri:Area/PubMed/Checkpoint">002912</idno><idno type="wicri:Area/Ncbi/Merge">001D99</idno><idno type="wicri:Area/Ncbi/Curation">001D99</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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"><nlm:affiliation>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany. friedrich.asmus@uni-tuebingen.de</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen</wicri:regionArea><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></author><author><name sortKey="Munz, Marita" sort="Munz, Marita" uniqKey="Munz M" first="Marita" last="Munz">Marita Munz</name></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Arginine (genetics)</term><term>Child</term><term>Chorea (diagnosis)</term><term>Chorea (genetics)</term><term>DNA Mutational Analysis</term><term>Dystonic Disorders (complications)</term><term>Dystonic Disorders (diagnosis)</term><term>Dystonic Disorders (genetics)</term><term>Exons (genetics)</term><term>Family Health</term><term>Female</term><term>Genotype</term><term>Glycine (genetics)</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Myoclonus (etiology)</term><term>Myoclonus (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Sarcoglycans (genetics)</term><term>Transcription Factors (genetics)</term><term>Valine (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term><term>Glycine</term><term>Nuclear Proteins</term><term>Sarcoglycans</term><term>Transcription Factors</term><term>Valine</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Dystonic Disorders</term><term>Exons</term><term>Myoclonus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Mutation</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 epsilon-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></record>Pour manipuler ce document sous Unix (Dilib)
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