"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.
Identifieur interne : 002479 ( Ncbi/Merge ); précédent : 002478; suivant : 002480"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.
Auteurs : Friedrich Asmus [Allemagne] ; Annette Langseth ; Elaine Doherty ; Therese Nestor ; Marita Munz ; Thomas Gasser ; Tim Lynch ; Mary D. KingSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Anticonvulsants (therapeutic use), Antiparkinson Agents (therapeutic use), Child, Child, Preschool, DNA Mutational Analysis, Dystonia (complications), Dystonia (diagnosis), Dystonia (drug therapy), Dystonia (genetics), Exons, Female, Genetic Testing, Genotype, Humans, Hyperkinesis (complications), Hyperkinesis (diagnosis), Hyperkinesis (drug therapy), Hyperkinesis (genetics), Levodopa (therapeutic use), Longitudinal Studies, Male, Middle Aged, Muscle, Skeletal (physiopathology), Mutation (genetics), Myoclonus (genetics), Myoclonus (physiopathology), Nuclear Proteins (genetics), Phenotype, Sarcoglycans (genetics), Severity of Illness Index, Transcription Factors (genetics), Tyrosine (genetics), Young Adult.
- 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.
DOI: 10.1002/mds.22426
PubMed: 19117362
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King</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22426</idno><idno type="RBID">pubmed:19117362</idno><idno type="pmid">19117362</idno><idno type="wicri:Area/PubMed/Corpus">001E85</idno><idno type="wicri:Area/PubMed/Curation">001E85</idno><idno type="wicri:Area/PubMed/Checkpoint">001F90</idno><idno type="wicri:Area/Ncbi/Merge">002479</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.</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 Disease, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany.</nlm:affiliation><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="Langseth, Annette" sort="Langseth, Annette" uniqKey="Langseth A" first="Annette" last="Langseth">Annette Langseth</name></author><author><name sortKey="Doherty, Elaine" sort="Doherty, Elaine" uniqKey="Doherty E" first="Elaine" last="Doherty">Elaine Doherty</name></author><author><name sortKey="Nestor, Therese" sort="Nestor, Therese" uniqKey="Nestor T" first="Therese" last="Nestor">Therese Nestor</name></author><author><name sortKey="Munz, Marita" sort="Munz, Marita" uniqKey="Munz M" first="Marita" last="Munz">Marita Munz</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D" last="King">Mary D. King</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="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></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>DNA Mutational Analysis</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>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 (genetics)</term><term>Myoclonus (physiopathology)</term><term>Nuclear Proteins (genetics)</term><term>Phenotype</term><term>Sarcoglycans (genetics)</term><term>Severity of Illness Index</term><term>Transcription Factors (genetics)</term><term>Tyrosine (genetics)</term><term>Young Adult</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></textClass></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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19117362</PMID><DateCreated><Year>2009</Year><Month>05</Month><Day>04</Day></DateCreated><DateCompleted><Year>2009</Year><Month>07</Month><Day>28</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>24</Volume><Issue>5</Issue><PubDate><Year>2009</Year><Month>Apr</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.</ArticleTitle><Pagination><MedlinePgn>702-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22426</ELocationID><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Asmus</LastName><ForeName>Friedrich</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Langseth</LastName><ForeName>Annette</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Doherty</LastName><ForeName>Elaine</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Nestor</LastName><ForeName>Therese</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Munz</LastName><ForeName>Marita</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Gasser</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Lynch</LastName><ForeName>Tim</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>King</LastName><ForeName>Mary D</ForeName><Initials>MD</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><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 Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000927">Anticonvulsants</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000978">Antiparkinson Agents</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009687">Nuclear Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C526573">SGCG protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D049031">Sarcoglycans</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D014157">Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C066173">thyroid nuclear factor 1</NameOfSubstance></Chemical><Chemical><RegistryNumber>42HK56048U</RegistryNumber><NameOfSubstance UI="D014443">Tyrosine</NameOfSubstance></Chemical><Chemical><RegistryNumber>46627O600J</RegistryNumber><NameOfSubstance UI="D007980">Levodopa</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000927">Anticonvulsants</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000978">Antiparkinson Agents</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000188">drug therapy</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006948">Hyperkinesis</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000188">drug therapy</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007980">Levodopa</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008137">Longitudinal Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018482">Muscle, Skeletal</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009207">Myoclonus</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009687">Nuclear Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D049031">Sarcoglycans</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012720">Severity of Illness Index</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014157">Transcription Factors</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014443">Tyrosine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>1</Month><Day>2</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>1</Month><Day>2</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>7</Month><Day>29</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22426</ArticleId><ArticleId IdType="pubmed">19117362</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li></region><settlement><li>Tübingen</li></settlement></list><tree><noCountry><name sortKey="Doherty, Elaine" sort="Doherty, Elaine" uniqKey="Doherty E" first="Elaine" last="Doherty">Elaine Doherty</name><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D" last="King">Mary D. King</name><name sortKey="Langseth, Annette" sort="Langseth, Annette" uniqKey="Langseth A" first="Annette" last="Langseth">Annette Langseth</name><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name><name sortKey="Munz, Marita" sort="Munz, Marita" uniqKey="Munz M" first="Marita" last="Munz">Marita Munz</name><name sortKey="Nestor, Therese" sort="Nestor, Therese" uniqKey="Nestor T" first="Therese" last="Nestor">Therese Nestor</name></noCountry><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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