Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.
Identifieur interne : 001024 ( Ncbi/Checkpoint ); 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
Affiliations:
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<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Genetics, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
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<author><name sortKey="Mierzewska, Hanna" sort="Mierzewska, Hanna" uniqKey="Mierzewska H" first="Hanna" last="Mierzewska">Hanna Mierzewska</name>
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<author><name sortKey="Lysiak, Zofia" sort="Lysiak, Zofia" uniqKey="Lysiak Z" first="Zofia" last="Lysiak">Zofia Lysiak</name>
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<author><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name>
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<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
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<author><name sortKey="Mierzewska, Hanna" sort="Mierzewska, Hanna" uniqKey="Mierzewska H" first="Hanna" last="Mierzewska">Hanna Mierzewska</name>
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<author><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<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>
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<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term>
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<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>
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<term>Adult</term>
<term>Amino Acid Sequence</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
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<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>
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<name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name>
<name sortKey="Lysiak, Zofia" sort="Lysiak, Zofia" uniqKey="Lysiak Z" first="Zofia" last="Lysiak">Zofia Lysiak</name>
<name sortKey="Mierzewska, Hanna" sort="Mierzewska, Hanna" uniqKey="Mierzewska H" first="Hanna" last="Mierzewska">Hanna Mierzewska</name>
<name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
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<country name="Pologne"><noRegion><name sortKey="Zaremba, Jacek" sort="Zaremba, Jacek" uniqKey="Zaremba J" first="Jacek" last="Zaremba">Jacek Zaremba</name>
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