New family with paroxysmal exercise-induced dystonia and epilepsy.
Identifieur interne : 002830 ( PubMed/Corpus ); précédent : 002829; suivant : 002831New family with paroxysmal exercise-induced dystonia and epilepsy.
Auteurs : Christoph Kamm ; Petra Mayer ; Manu Sharma ; Gerhard Niemann ; Thomas GasserSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- 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:17290464Le 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>
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<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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<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>
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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>
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<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Epilepsy</term>
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<term>Chromosomes, Human, Pair 2</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>
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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>
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<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
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