Clinical differentiation of genetically proven benign hereditary chorea and myoclonus‐dystonia
Identifieur interne : 002F55 ( Main/Exploration ); précédent : 002F54; suivant : 002F56Clinical 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 ] ; 2007-10-31.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Arginine (genetics), Child, Chorea, Chorea (diagnosis), Chorea (genetics), DNA Mutational Analysis, Dystonia, Dystonic Disorders (complications), Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Exons (genetics), Family Health, Female, Genotype, Glycine (genetics), Humans, Male, Mutation, Myoclonus, Myoclonus (etiology), Myoclonus (genetics), Nervous system diseases, Nuclear Proteins (genetics), SGCE, Sarcoglycans (genetics), TITF‐1, Transcription Factors (genetics), Valine (genetics), benign hereditary chorea, epsilon‐sarcoglycan, myoclonus‐dystonia.
- 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 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. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21692
Affiliations:
- Allemagne, Autriche, Royaume-Uni
- Bade-Wurtemberg, District de Tübingen, Vienne (Autriche)
- Tübingen, Vienne (Autriche)
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Chinnery</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Human Genetics and Mitochondrial Research Group, M4014, University of Newcastle upon Tyne, Newcastle upon Tyne</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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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. © 2007 Movement Disorder Society</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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