A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.
Identifieur interne : 003F01 ( PubMed/Curation ); précédent : 003F00; suivant : 003F02A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.
Auteurs : A. Münchau [Royaume-Uni] ; E M Valente ; M B Davis ; V. Stinton ; N W Wood ; N P Quinn ; K P BhatiaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.
English descriptors
- KwdEn :
- Adult, Age of Onset, Blepharospasm (genetics), Child, Preschool, Chromosomes, Human, Pair 18 (genetics), Chromosomes, Human, Pair 8 (genetics), DNA Mutational Analysis, Dystonic Disorders (complications), Dystonic Disorders (genetics), Female, Genetic Linkage, Genetic Markers, Great Britain, Haplotypes, Humans, Lod Score, Male, Middle Aged, Pedigree, Phenotype, Syndrome, Torticollis (genetics), Tremor (genetics), Videotape Recording.
- MESH :
- chemical : Genetic Markers.
- geographic : Great Britain.
- complications : Dystonic Disorders.
- genetics : Blepharospasm, Chromosomes, Human, Pair 18, Chromosomes, Human, Pair 8, Dystonic Disorders, Torticollis, Tremor.
- Adult, Age of Onset, Child, Preschool, DNA Mutational Analysis, Female, Genetic Linkage, Haplotypes, Humans, Lod Score, Male, Middle Aged, Pedigree, Phenotype, Syndrome, Videotape Recording.
Abstract
Although a family history is described in approximately 20% of patients, large families with adult-onset craniocervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio-cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable PTD. Mean age at onset was 29 years (range, 19-40 yrs). The phenotype was characterized by adult-onset cranio-cervical dystonia in all affected cases. A few cases had additional voice tremor and/or postural arm tremor. The GAG deletion in the DYT1 gene was excluded in the index case. Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects. Although linkage analysis was not completely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7. This report confirms that familial cranio-cervical dystonia is genetically heterogeneous, and further studies of other PTD families with similar clinical features are needed to identify other new genes.
PubMed: 11009204
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Stinton</name></author><author><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N W Wood</name></author><author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N P" last="Quinn">N P Quinn</name></author><author><name sortKey="Bhatia, K P" sort="Bhatia, K P" uniqKey="Bhatia K" first="K P" last="Bhatia">K P Bhatia</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2000">2000</date><idno type="RBID">pubmed:11009204</idno><idno type="pmid">11009204</idno><idno type="wicri:Area/PubMed/Corpus">003F01</idno><idno type="wicri:Area/PubMed/Curation">003F01</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.</title><author><name sortKey="Munchau, A" sort="Munchau, A" uniqKey="Munchau A" first="A" last="Münchau">A. Münchau</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Neurology, Institute of Neurology, University College of London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neurology, Institute of Neurology, University College of London</wicri:regionArea></affiliation></author><author><name sortKey="Valente, E M" sort="Valente, E M" uniqKey="Valente E" first="E M" last="Valente">E M Valente</name></author><author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M B" last="Davis">M B Davis</name></author><author><name sortKey="Stinton, V" sort="Stinton, V" uniqKey="Stinton V" first="V" last="Stinton">V. Stinton</name></author><author><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N W Wood</name></author><author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N P" last="Quinn">N P Quinn</name></author><author><name sortKey="Bhatia, K P" sort="Bhatia, K P" uniqKey="Bhatia K" first="K P" last="Bhatia">K P Bhatia</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="2000" type="published">2000</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Blepharospasm (genetics)</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 18 (genetics)</term><term>Chromosomes, Human, Pair 8 (genetics)</term><term>DNA Mutational Analysis</term><term>Dystonic Disorders (complications)</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Genetic Linkage</term><term>Genetic Markers</term><term>Great Britain</term><term>Haplotypes</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term><term>Syndrome</term><term>Torticollis (genetics)</term><term>Tremor (genetics)</term><term>Videotape Recording</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Great Britain</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Blepharospasm</term><term>Chromosomes, Human, Pair 18</term><term>Chromosomes, Human, Pair 8</term><term>Dystonic Disorders</term><term>Torticollis</term><term>Tremor</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Linkage</term><term>Haplotypes</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term><term>Syndrome</term><term>Videotape Recording</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Although a family history is described in approximately 20% of patients, large families with adult-onset craniocervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio-cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable PTD. Mean age at onset was 29 years (range, 19-40 yrs). The phenotype was characterized by adult-onset cranio-cervical dystonia in all affected cases. A few cases had additional voice tremor and/or postural arm tremor. The GAG deletion in the DYT1 gene was excluded in the index case. Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects. Although linkage analysis was not completely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7. This report confirms that familial cranio-cervical dystonia is genetically heterogeneous, and further studies of other PTD families with similar clinical features are needed to identify other new genes.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11009204</PMID><DateCreated><Year>2001</Year><Month>01</Month><Day>09</Day></DateCreated><DateCompleted><Year>2001</Year><Month>01</Month><Day>09</Day></DateCompleted><DateRevised><Year>2010</Year><Month>11</Month><Day>18</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>15</Volume><Issue>5</Issue><PubDate><Year>2000</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.</ArticleTitle><Pagination><MedlinePgn>954-9</MedlinePgn></Pagination><Abstract><AbstractText>Although a family history is described in approximately 20% of patients, large families with adult-onset craniocervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio-cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable PTD. Mean age at onset was 29 years (range, 19-40 yrs). The phenotype was characterized by adult-onset cranio-cervical dystonia in all affected cases. A few cases had additional voice tremor and/or postural arm tremor. The GAG deletion in the DYT1 gene was excluded in the index case. Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects. Although linkage analysis was not completely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7. This report confirms that familial cranio-cervical dystonia is genetically heterogeneous, and further studies of other PTD families with similar clinical features are needed to identify other new genes.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Münchau</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Clinical Neurology, Institute of Neurology, University College of London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Valente</LastName><ForeName>E M</ForeName><Initials>EM</Initials></Author><Author ValidYN="Y"><LastName>Davis</LastName><ForeName>M B</ForeName><Initials>MB</Initials></Author><Author ValidYN="Y"><LastName>Stinton</LastName><ForeName>V</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>N W</ForeName><Initials>NW</Initials></Author><Author ValidYN="Y"><LastName>Quinn</LastName><ForeName>N P</ForeName><Initials>NP</Initials></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>K P</ForeName><Initials>KP</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><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="D005819">Genetic Markers</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of 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UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008040">Genetic Linkage</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005819">Genetic Markers</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D006113">Great Britain</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006239">Haplotypes</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008126">Lod Score</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName 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