Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
Identifieur interne : 002192 ( PubMed/Checkpoint ); précédent : 002191; suivant : 002193Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
Auteurs : Nardo Nardocci [Italie] ; Giovanna Zorzi ; Chiara Barzaghi ; Federica Zibordi ; Claudia Ciano ; Daniele Ghezzi ; Barbara GaravagliaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Chromosomes, Human, Pair 7 (genetics), DNA Primers (genetics), DNA, Complementary (genetics), Disease Progression, Dystonia (epidemiology), Dystonia (genetics), Dystonia (physiopathology), Electromyography, Exons (genetics), Female, Follow-Up Studies, Humans, Infant, Male, Middle Aged, Molecular Chaperones (genetics), Muscle, Skeletal (innervation), Muscle, Skeletal (physiopathology), Myoclonus (epidemiology), Myoclonus (genetics), Myoclonus (physiopathology), Point Mutation (genetics), Protein Splicing (genetics), Sarcoglycans (genetics), Syndrome, Upper Extremity (physiopathology).
- MESH :
- chemical , genetics : DNA Primers, DNA, Complementary, Molecular Chaperones, Sarcoglycans.
- epidemiology : Dystonia, Myoclonus.
- genetics : Chromosomes, Human, Pair 7, Dystonia, Exons, Myoclonus, Point Mutation, Protein Splicing.
- innervation : Muscle, Skeletal.
- physiopathology : Dystonia, Muscle, Skeletal, Myoclonus, Upper Extremity.
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Disease Progression, Electromyography, Female, Follow-Up Studies, Humans, Infant, Male, Middle Aged, Syndrome.
Abstract
Myoclonus-dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation-positive and -negative cases.
DOI: 10.1002/mds.21715
PubMed: 17853490
Affiliations:
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last="Barzaghi">Chiara Barzaghi</name></author><author><name sortKey="Zibordi, Federica" sort="Zibordi, Federica" uniqKey="Zibordi F" first="Federica" last="Zibordi">Federica Zibordi</name></author><author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name></author><author><name sortKey="Ghezzi, Daniele" sort="Ghezzi, Daniele" uniqKey="Ghezzi D" first="Daniele" last="Ghezzi">Daniele Ghezzi</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.21715</idno><idno type="RBID">pubmed:17853490</idno><idno type="pmid">17853490</idno><idno type="wicri:Area/PubMed/Corpus">002525</idno><idno type="wicri:Area/PubMed/Curation">002525</idno><idno 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scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 7 (genetics)</term><term>DNA Primers (genetics)</term><term>DNA, Complementary (genetics)</term><term>Disease Progression</term><term>Dystonia (epidemiology)</term><term>Dystonia (genetics)</term><term>Dystonia (physiopathology)</term><term>Electromyography</term><term>Exons (genetics)</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Muscle, Skeletal (innervation)</term><term>Muscle, Skeletal (physiopathology)</term><term>Myoclonus (epidemiology)</term><term>Myoclonus (genetics)</term><term>Myoclonus (physiopathology)</term><term>Point Mutation (genetics)</term><term>Protein Splicing (genetics)</term><term>Sarcoglycans (genetics)</term><term>Syndrome</term><term>Upper Extremity (physiopathology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term><term>DNA, Complementary</term><term>Molecular Chaperones</term><term>Sarcoglycans</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Dystonia</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 7</term><term>Dystonia</term><term>Exons</term><term>Myoclonus</term><term>Point Mutation</term><term>Protein Splicing</term></keywords><keywords scheme="MESH" qualifier="innervation" xml:lang="en"><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia</term><term>Muscle, Skeletal</term><term>Myoclonus</term><term>Upper Extremity</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>Disease Progression</term><term>Electromyography</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Myoclonus-dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation-positive and -negative cases.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17853490</PMID><DateCreated><Year>2008</Year><Month>01</Month><Day>31</Day></DateCreated><DateCompleted><Year>2008</Year><Month>04</Month><Day>14</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>1</Issue><PubDate><Year>2008</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.</ArticleTitle><Pagination><MedlinePgn>28-34</MedlinePgn></Pagination><Abstract><AbstractText>Myoclonus-dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. 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ValidYN="Y"><LastName>Ghezzi</LastName><ForeName>Daniele</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Garavaglia</LastName><ForeName>Barbara</ForeName><Initials>B</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="D017931">DNA Primers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018076">DNA, Complementary</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018832">Molecular Chaperones</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C526572">SGCE protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D049031">Sarcoglycans</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C108175">TOR1A protein, human</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="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName 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UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018482">Muscle, Skeletal</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000294">innervation</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009207">Myoclonus</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019154">Protein Splicing</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D049031">Sarcoglycans</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013577">Syndrome</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D034941">Upper Extremity</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>9</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>4</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>9</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21715</ArticleId><ArticleId IdType="pubmed">17853490</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Italie</li></country></list><tree><noCountry><name sortKey="Barzaghi, Chiara" sort="Barzaghi, Chiara" uniqKey="Barzaghi C" first="Chiara" last="Barzaghi">Chiara Barzaghi</name><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><name sortKey="Ghezzi, Daniele" sort="Ghezzi, Daniele" uniqKey="Ghezzi D" first="Daniele" last="Ghezzi">Daniele Ghezzi</name><name sortKey="Zibordi, Federica" sort="Zibordi, Federica" uniqKey="Zibordi F" first="Federica" last="Zibordi">Federica Zibordi</name><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name></noCountry><country name="Italie"><noRegion><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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