Three brothers with a very-late-onset writer's cramp.
Identifieur interne : 001282 ( Ncbi/Checkpoint ); précédent : 001281; suivant : 001283Three brothers with a very-late-onset writer's cramp.
Auteurs : Roongroj Bhidayasiri [États-Unis] ; Joanna C. Jen ; Robert W. BalohSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Age Factors, Aged, Chromosomes, Human, Pair 8 (genetics), DNA (analysis), Dystonia Musculorum Deformans (genetics), Dystonia Musculorum Deformans (physiopathology), Dystonic Disorders (genetics), Dystonic Disorders (physiopathology), Genetic Markers, Humans, Male, Molecular Chaperones (genetics), Severity of Illness Index.
- MESH :
- chemical , analysis : DNA.
- genetics : Chromosomes, Human, Pair 8, Dystonia Musculorum Deformans, Dystonic Disorders, Molecular Chaperones.
- physiopathology : Dystonia Musculorum Deformans, Dystonic Disorders.
- Age Factors, Aged, Genetic Markers, Humans, Male, Severity of Illness Index.
Abstract
Writer's cramp (WC) is a form of focal task-specific dystonia, which is brought on by writing. Although most cases are sporadic, a positive family history is present in 5% to 20% of cases. To date, WC has been reported in several families with primary torsion dystonia, including DYT7, a pure focal dystonia, and in the mixed dystonias, DYT1, DYT6, and DYT13. We describe a family of Bulgarian descent with three brothers presenting with a very-late-onset dystonic WC, compatible with linkage to chromosome 18p.
DOI: 10.1002/mds.20568
PubMed: 15954129
Affiliations:
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pubmed:15954129Le document en format XML
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Jen</name></author><author><name sortKey="Baloh, Robert W" sort="Baloh, Robert W" uniqKey="Baloh R" first="Robert W" last="Baloh">Robert W. Baloh</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="doi">10.1002/mds.20568</idno><idno type="RBID">pubmed:15954129</idno><idno type="pmid">15954129</idno><idno type="wicri:Area/PubMed/Corpus">003030</idno><idno type="wicri:Area/PubMed/Curation">003030</idno><idno type="wicri:Area/PubMed/Checkpoint">002F37</idno><idno type="wicri:Area/Ncbi/Merge">001282</idno><idno type="wicri:Area/Ncbi/Curation">001282</idno><idno type="wicri:Area/Ncbi/Checkpoint">001282</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Three brothers with a very-late-onset writer's cramp.</title><author><name sortKey="Bhidayasiri, Roongroj" sort="Bhidayasiri, Roongroj" uniqKey="Bhidayasiri R" first="Roongroj" last="Bhidayasiri">Roongroj Bhidayasiri</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, UCLA Medical Center, Geffen School of Medicine, University of California, Los Angeles, California 90095, USA. rbh@ucla.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, UCLA Medical Center, Geffen School of Medicine, University of California, Los Angeles, California 90095</wicri:regionArea><wicri:noRegion>California 90095</wicri:noRegion></affiliation></author><author><name sortKey="Jen, Joanna C" sort="Jen, Joanna C" uniqKey="Jen J" first="Joanna C" last="Jen">Joanna C. Jen</name></author><author><name sortKey="Baloh, Robert W" sort="Baloh, Robert W" uniqKey="Baloh R" first="Robert W" last="Baloh">Robert W. Baloh</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="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age Factors</term><term>Aged</term><term>Chromosomes, Human, Pair 8 (genetics)</term><term>DNA (analysis)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Dystonia Musculorum Deformans (physiopathology)</term><term>Dystonic Disorders (genetics)</term><term>Dystonic Disorders (physiopathology)</term><term>Genetic Markers</term><term>Humans</term><term>Male</term><term>Molecular Chaperones (genetics)</term><term>Severity of Illness Index</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>DNA</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 8</term><term>Dystonia Musculorum Deformans</term><term>Dystonic Disorders</term><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age Factors</term><term>Aged</term><term>Genetic Markers</term><term>Humans</term><term>Male</term><term>Severity of Illness Index</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Writer's cramp (WC) is a form of focal task-specific dystonia, which is brought on by writing. Although most cases are sporadic, a positive family history is present in 5% to 20% of cases. To date, WC has been reported in several families with primary torsion dystonia, including DYT7, a pure focal dystonia, and in the mixed dystonias, DYT1, DYT6, and DYT13. We describe a family of Bulgarian descent with three brothers presenting with a very-late-onset dystonic WC, compatible with linkage to chromosome 18p.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Baloh, Robert W" sort="Baloh, Robert W" uniqKey="Baloh R" first="Robert W" last="Baloh">Robert W. Baloh</name><name sortKey="Jen, Joanna C" sort="Jen, Joanna C" uniqKey="Jen J" first="Joanna C" last="Jen">Joanna C. Jen</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Bhidayasiri, Roongroj" sort="Bhidayasiri, Roongroj" uniqKey="Bhidayasiri R" first="Roongroj" last="Bhidayasiri">Roongroj Bhidayasiri</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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