Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.
Identifieur interne : 001024 ( Ncbi/Curation ); précédent : 001023; suivant : 001025Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.
Auteurs : Jacek Zaremba [Pologne] ; Hanna Mierzewska ; Zofia Lysiak ; Patricia Kramer ; Laurie J. Ozelius ; Allison BrashearSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- MESH :
- chemical : Genetic Markers.
- genetics : Chromosomes, Human, Pair 19, Dystonia, Genetic Linkage, Parkinsonian Disorders.
- Adolescent, Adult, Amino Acid Sequence, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Pedigree.
Abstract
Rapid-onset dystonia-parkinsonism (RDP, DYT12, MIM 128235) is a rare autosomal dominant movement disorder characterized by abrupt onset of slow, dystonic movements and prominent bulbar features. Three families and 1 isolated case have been described in the literature, and linkage to markers on chromosome 19q13 have been reported. Here, we describe the clinical features in a fourth family (the second in Europe) with 4 affected members, suggesting that RDP may be misdiagnosed for years and/or may mimic other dystonic/parkinsonian syndromes. By using haplotype analysis, we show that the family is consistent with linkage to markers on chromosome 19q13.
DOI: 10.1002/mds.20258
PubMed: 15390049
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Ozelius</name></author><author><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2004">2004</date><idno type="RBID">pubmed:15390049</idno><idno type="pmid">15390049</idno><idno type="doi">10.1002/mds.20258</idno><idno type="wicri:Area/PubMed/Corpus">003264</idno><idno type="wicri:Area/PubMed/Curation">003264</idno><idno type="wicri:Area/PubMed/Checkpoint">003340</idno><idno type="wicri:Area/Ncbi/Merge">001024</idno><idno type="wicri:Area/Ncbi/Curation">001024</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.</title><author><name sortKey="Zaremba, Jacek" sort="Zaremba, Jacek" uniqKey="Zaremba J" first="Jacek" last="Zaremba">Jacek Zaremba</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. zaremba@ipin.edu.pl</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Genetics, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Mierzewska, Hanna" sort="Mierzewska, Hanna" uniqKey="Mierzewska H" first="Hanna" last="Mierzewska">Hanna Mierzewska</name></author><author><name sortKey="Lysiak, Zofia" sort="Lysiak, Zofia" uniqKey="Lysiak Z" first="Zofia" last="Lysiak">Zofia Lysiak</name></author><author><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name></author><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name></author><author><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</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="2004" type="published">2004</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Amino Acid Sequence</term><term>Chromosomes, Human, Pair 19 (genetics)</term><term>Dystonia (genetics)</term><term>Female</term><term>Genetic Linkage (genetics)</term><term>Genetic Markers</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Parkinsonian Disorders (genetics)</term><term>Pedigree</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 19</term><term>Dystonia</term><term>Genetic Linkage</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Amino Acid Sequence</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Rapid-onset dystonia-parkinsonism (RDP, DYT12, MIM 128235) is a rare autosomal dominant movement disorder characterized by abrupt onset of slow, dystonic movements and prominent bulbar features. Three families and 1 isolated case have been described in the literature, and linkage to markers on chromosome 19q13 have been reported. Here, we describe the clinical features in a fourth family (the second in Europe) with 4 affected members, suggesting that RDP may be misdiagnosed for years and/or may mimic other dystonic/parkinsonian syndromes. By using haplotype analysis, we show that the family is consistent with linkage to markers on chromosome 19q13.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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