“Jerky” dystonia in children: Spectrum of phenotypes and genetic testing
Identifieur interne : 001F78 ( Main/Exploration ); précédent : 001F77; suivant : 001F79“Jerky” dystonia in children: Spectrum of phenotypes and genetic testing
Auteurs : Friedrich Asmus [Allemagne] ; Annette Langseth [Irlande (pays)] ; Elaine Doherty [Irlande (pays)] ; Therese Nestor [Irlande (pays)] ; Marita Munz [Allemagne] ; Thomas Gasser [Allemagne] ; Tim Lynch [Irlande (pays)] ; Mary D. King [Irlande (pays)]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-04-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Enfant.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Anticonvulsants (therapeutic use), Antiparkinson Agents (therapeutic use), Child, Child, Preschool, Chorea, DNA Mutational Analysis, Dystonia, Dystonia (complications), Dystonia (diagnosis), Dystonia (drug therapy), Dystonia (genetics), Exons, Female, Genetic Testing, Genotype, Humans, Hyperkinesia, Hyperkinesis (complications), Hyperkinesis (diagnosis), Hyperkinesis (drug therapy), Hyperkinesis (genetics), Levodopa (therapeutic use), Longitudinal Studies, Male, Middle Aged, Muscle, Skeletal (physiopathology), Mutation (genetics), Myoclonus, Myoclonus (genetics), Myoclonus (physiopathology), Nervous system diseases, Nuclear Proteins (genetics), Phenotype, Sarcoglycans (genetics), Severity of Illness Index, TITF‐1, Transcription Factors (genetics), Tyrosine (genetics), Young Adult, benign hereditary chorea, epsilon‐sarcoglycan, hyperkinetic dystonia, myoclonic dystonia, myoclonus‐dystonia, poly‐mini myoclonus.
- MESH :
- chemical , genetics : Nuclear Proteins, Sarcoglycans, Transcription Factors, Tyrosine.
- chemical , therapeutic use : Anticonvulsants, Antiparkinson Agents, Levodopa.
- complications : Dystonia, Hyperkinesis.
- diagnosis : Dystonia, Hyperkinesis.
- drug therapy : Dystonia, Hyperkinesis.
- genetics : Dystonia, Hyperkinesis, Mutation, Myoclonus.
- physiopathology : Muscle, Skeletal, Myoclonus.
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, DNA Mutational Analysis, Exons, Female, Genetic Testing, Genotype, Humans, Longitudinal Studies, Male, Middle Aged, Phenotype, Severity of Illness Index, Young Adult.
Abstract
Hyperkinetic dystonia is characterized by phasic, tremulous, and “jerky” movements in addition to twisting postures. We studied longitudinally 23 index patients with hyperkinetic dystonia from a quaternary pediatric movement disorder clinic in Ireland. Four clinical categories emerged: (1) Eight patients were diagnosed with myoclonus‐dystonia, of whom seven carried heterozygous epsilon sarcoglycan (SGCE) mutations, including a novel deletion of exon 10. Gait disorder, unsteadiness, or frequent falls before 18 months were detected in all SGCE mutation carriers, whereas the typical neck‐predominant presentation developed only years later. (2) One patient classified as benign hereditary chorea, because jerks were choreiform and continuous rather than action‐induced, carried a heterozygous stop mutation of the TITF‐1 gene (Y114X, exon 2). (3) Three mutation‐negative patients were grouped as “myoclonic dystonia” with jerks only in the body regions affected by dystonia. (4) Eleven patients presented with a novel combination of dystonia and low amplitude poly‐mini myoclonus of the upper limbs and pectoral muscles (D‐PMM). In early childhood up to 3 years of age, an initial presentation with predominant gait impairment with only subtle jerks should prompt consideration of SGCE mutation analysis in addition to testing for DYT1 mutations. A causative gene for D‐PMM remains to be identified. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22426
Affiliations:
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Le document en format XML
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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><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of General Neurology, 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="Langseth, Annette" sort="Langseth, Annette" uniqKey="Langseth A" first="Annette" last="Langseth">Annette Langseth</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatric Neurology, The Children's University Hospital, Temple Street, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Doherty, Elaine" sort="Doherty, Elaine" uniqKey="Doherty E" first="Elaine" last="Doherty">Elaine Doherty</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatric Neurology, The Children's University Hospital, Temple Street, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Nestor, Therese" sort="Nestor, Therese" uniqKey="Nestor T" first="Therese" last="Nestor">Therese Nestor</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatric Neurology, The Children's University Hospital, Temple Street, Dublin</wicri:regionArea><wicri:noRegion>Dublin</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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Disease, 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="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Disease, 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="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Neurology, Mater Misericordiae University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Conway Institute of Biomolecular and Biomedical Research, University College, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D." last="King">Mary D. King</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatric Neurology, The Children's University Hospital, Temple Street, Dublin</wicri:regionArea><wicri:noRegion>Dublin</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. 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="2009-04-15">2009-04-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="702">702</biblScope><biblScope unit="page" to="709">709</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">1B23F9E71A50B29199C1B9323C1824BC4AAD6DC3</idno><idno type="DOI">10.1002/mds.22426</idno><idno type="ArticleID">MDS22426</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Anticonvulsants (therapeutic use)</term><term>Antiparkinson Agents (therapeutic use)</term><term>Child</term><term>Child, Preschool</term><term>Chorea</term><term>DNA Mutational Analysis</term><term>Dystonia</term><term>Dystonia (complications)</term><term>Dystonia (diagnosis)</term><term>Dystonia (drug therapy)</term><term>Dystonia (genetics)</term><term>Exons</term><term>Female</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Hyperkinesia</term><term>Hyperkinesis (complications)</term><term>Hyperkinesis (diagnosis)</term><term>Hyperkinesis (drug therapy)</term><term>Hyperkinesis (genetics)</term><term>Levodopa (therapeutic use)</term><term>Longitudinal Studies</term><term>Male</term><term>Middle Aged</term><term>Muscle, Skeletal (physiopathology)</term><term>Mutation (genetics)</term><term>Myoclonus</term><term>Myoclonus (genetics)</term><term>Myoclonus (physiopathology)</term><term>Nervous system diseases</term><term>Nuclear Proteins (genetics)</term><term>Phenotype</term><term>Sarcoglycans (genetics)</term><term>Severity of Illness Index</term><term>TITF‐1</term><term>Transcription Factors (genetics)</term><term>Tyrosine (genetics)</term><term>Young Adult</term><term>benign hereditary chorea</term><term>epsilon‐sarcoglycan</term><term>hyperkinetic dystonia</term><term>myoclonic dystonia</term><term>myoclonus‐dystonia</term><term>poly‐mini myoclonus</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nuclear Proteins</term><term>Sarcoglycans</term><term>Transcription Factors</term><term>Tyrosine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Anticonvulsants</term><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term><term>Hyperkinesis</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term><term>Hyperkinesis</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term><term>Hyperkinesis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Hyperkinesis</term><term>Mutation</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Muscle, Skeletal</term><term>Myoclonus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Exons</term><term>Female</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Longitudinal Studies</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Severity of Illness Index</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Enfant</term><term>Hyperkinésie</term><term>Myoclonie</term><term>Pathologie du système nerveux</term><term>Phénotype</term><term>Syndrome choréique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Enfant</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hyperkinetic dystonia is characterized by phasic, tremulous, and “jerky” movements in addition to twisting postures. We studied longitudinally 23 index patients with hyperkinetic dystonia from a quaternary pediatric movement disorder clinic in Ireland. Four clinical categories emerged: (1) Eight patients were diagnosed with myoclonus‐dystonia, of whom seven carried heterozygous epsilon sarcoglycan (SGCE) mutations, including a novel deletion of exon 10. Gait disorder, unsteadiness, or frequent falls before 18 months were detected in all SGCE mutation carriers, whereas the typical neck‐predominant presentation developed only years later. (2) One patient classified as benign hereditary chorea, because jerks were choreiform and continuous rather than action‐induced, carried a heterozygous stop mutation of the TITF‐1 gene (Y114X, exon 2). (3) Three mutation‐negative patients were grouped as “myoclonic dystonia” with jerks only in the body regions affected by dystonia. (4) Eleven patients presented with a novel combination of dystonia and low amplitude poly‐mini myoclonus of the upper limbs and pectoral muscles (D‐PMM). In early childhood up to 3 years of age, an initial presentation with predominant gait impairment with only subtle jerks should prompt consideration of SGCE mutation analysis in addition to testing for DYT1 mutations. A causative gene for D‐PMM remains to be identified. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Irlande (pays)</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li></region><settlement><li>Tübingen</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="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name><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="Irlande (pays)"><noRegion><name sortKey="Langseth, Annette" sort="Langseth, Annette" uniqKey="Langseth A" first="Annette" last="Langseth">Annette Langseth</name></noRegion><name sortKey="Doherty, Elaine" sort="Doherty, Elaine" uniqKey="Doherty E" first="Elaine" last="Doherty">Elaine Doherty</name><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D." last="King">Mary D. King</name><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name><name sortKey="Nestor, Therese" sort="Nestor, Therese" uniqKey="Nestor T" first="Therese" last="Nestor">Therese Nestor</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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