MovDisordV3, PubMed, Corpus, bibRecord, 002830

New family with paroxysmal exercise-induced dystonia and epilepsy.

Identifieur interne : 002830 ( PubMed/Corpus ); précédent : 002829; suivant : 002831

New family with paroxysmal exercise-induced dystonia and epilepsy.

Auteurs : Christoph Kamm ; Petra Mayer ; Manu Sharma ; Gerhard Niemann ; Thomas Gasser

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17290464

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Child, Chromosome Mapping, Chromosomes, Human, Pair 2, Epilepsy (etiology), Epilepsy (genetics), Exercise, Exercise Tolerance, Female, Humans, Male, Middle Aged, Movement Disorders (etiology), Movement Disorders (genetics), Pedigree.
MESH :
- etiology : Epilepsy, Movement Disorders.
- genetics : Epilepsy, Movement Disorders.
- Adolescent, Adult, Aged, Child, Chromosome Mapping, Chromosomes, Human, Pair 2, Exercise, Exercise Tolerance, Female, Humans, Male, Middle Aged, Pedigree.

Abstract

To date, there are few reports of paroxysmal exercise-induced dystonia associated with familial epilepsy. We describe a family with 4 affected members spanning 3 generations, suggestive of autosomal-dominant inheritance, who exhibited typical exercise-induced dystonia, different types of epilepsy (absence and primary generalized seizures), developmental delay, and migraine in variable combinations. Linkage of the disease to loci on chromosome 2 (paroxysmal nonkinesigenic dyskinesia) and chromosome 16 (paroxysmal kinesigenic choreoathetosis, infantile convulsions with choreoathetosis) was excluded, suggesting an as yet unidentified underlying genetic basis.

DOI: 10.1002/mds.21350
PubMed: 17290464

Links to Exploration step

pubmed:17290464

Le document en format XML

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<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
<affiliation><nlm:affiliation>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mayer, Petra" sort="Mayer, Petra" uniqKey="Mayer P" first="Petra" last="Mayer">Petra Mayer</name>
</author>
<author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name>
</author>
<author><name sortKey="Niemann, Gerhard" sort="Niemann, Gerhard" uniqKey="Niemann G" first="Gerhard" last="Niemann">Gerhard Niemann</name>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
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<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
<affiliation><nlm:affiliation>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mayer, Petra" sort="Mayer, Petra" uniqKey="Mayer P" first="Petra" last="Mayer">Petra Mayer</name>
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<author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name>
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<author><name sortKey="Niemann, Gerhard" sort="Niemann, Gerhard" uniqKey="Niemann G" first="Gerhard" last="Niemann">Gerhard Niemann</name>
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<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 2</term>
<term>Epilepsy (etiology)</term>
<term>Epilepsy (genetics)</term>
<term>Exercise</term>
<term>Exercise Tolerance</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Movement Disorders (etiology)</term>
<term>Movement Disorders (genetics)</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Epilepsy</term>
<term>Movement Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsy</term>
<term>Movement Disorders</term>
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<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 2</term>
<term>Exercise</term>
<term>Exercise Tolerance</term>
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<front><div type="abstract" xml:lang="en">To date, there are few reports of paroxysmal exercise-induced dystonia associated with familial epilepsy. We describe a family with 4 affected members spanning 3 generations, suggestive of autosomal-dominant inheritance, who exhibited typical exercise-induced dystonia, different types of epilepsy (absence and primary generalized seizures), developmental delay, and migraine in variable combinations. Linkage of the disease to loci on chromosome 2 (paroxysmal nonkinesigenic dyskinesia) and chromosome 16 (paroxysmal kinesigenic choreoathetosis, infantile convulsions with choreoathetosis) was excluded, suggesting an as yet unidentified underlying genetic basis.</div>
</front>
</TEI>
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<DateCreated><Year>2007</Year>
<Month>05</Month>
<Day>01</Day>
</DateCreated>
<DateCompleted><Year>2007</Year>
<Month>07</Month>
<Day>12</Day>
</DateCompleted>
<DateRevised><Year>2007</Year>
<Month>12</Month>
<Day>03</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>22</Volume>
<Issue>6</Issue>
<PubDate><Year>2007</Year>
<Month>Apr</Month>
<Day>30</Day>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>New family with paroxysmal exercise-induced dystonia and epilepsy.</ArticleTitle>
<Pagination><MedlinePgn>873-7</MedlinePgn>
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<Abstract><AbstractText>To date, there are few reports of paroxysmal exercise-induced dystonia associated with familial epilepsy. We describe a family with 4 affected members spanning 3 generations, suggestive of autosomal-dominant inheritance, who exhibited typical exercise-induced dystonia, different types of epilepsy (absence and primary generalized seizures), developmental delay, and migraine in variable combinations. Linkage of the disease to loci on chromosome 2 (paroxysmal nonkinesigenic dyskinesia) and chromosome 16 (paroxysmal kinesigenic choreoathetosis, infantile convulsions with choreoathetosis) was excluded, suggesting an as yet unidentified underlying genetic basis.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kamm</LastName>
<ForeName>Christoph</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany.</Affiliation>
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<Author ValidYN="Y"><LastName>Sharma</LastName>
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<Author ValidYN="Y"><LastName>Niemann</LastName>
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<Language>eng</Language>
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<Country>United States</Country>
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<MedlineJournalInfo><Country>United States</Country>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002874">Chromosome Mapping</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002889">Chromosomes, Human, Pair 2</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004827">Epilepsy</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D017079">Exercise Tolerance</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</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="D009069">Movement Disorders</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
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<Day>10</Day>
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	Movement Disorders (revue)
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Movement Disorders (revue)

New family with paroxysmal exercise-induced dystonia and epilepsy.

New family with paroxysmal exercise-induced dystonia and epilepsy.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki